SNP Links for Protein (Select 767965472) - SNP

Select item 14909665491.

rs1490966549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:1008068 (GRCh38)
11:1008068 (GRCh37)
Canonical SPDI:: NC_000011.10:1008067:C:G
Gene:: AP2A2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1008068C>G, NC_000011.9:g.1008068C>G, NT_187681.1:g.77509C>G, NT_187656.1:g.70811C>G, NM_012305.4:c.2353C>G, NM_012305.3:c.2353C>G, NM_001242837.2:c.2356C>G, NM_001242837.1:c.2356C>G, XM_011519929.2:c.2128C>G, XM_011519929.1:c.2128C>G, NR_144510.2:n.2341C>G, NR_144510.1:n.2402C>G, NR_144509.2:n.2338C>G, NR_144509.1:n.2399C>G, XM_047426480.1:c.2128C>G, XM_047426479.1:c.2128C>G, XM_047426482.1:c.2128C>G, XM_047426484.1:c.2125C>G, XM_047426485.1:c.2128C>G, XM_047426481.1:c.2128C>G, NP_036437.1:p.Gln785Glu, NP_001229766.1:p.Gln786Glu, XP_011518231.1:p.Gln710Glu, XP_047282436.1:p.Gln710Glu, XP_047282435.1:p.Gln710Glu, XP_047282438.1:p.Gln710Glu, XP_047282440.1:p.Gln709Glu, XP_047282441.1:p.Gln710Glu, XP_047282437.1:p.Gln710Glu

Select item 14885768382.

rs1488576838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:993836 (GRCh38)
11:993836 (GRCh37)
Canonical SPDI:: NC_000011.10:993835:A:G
Gene:: AP2A2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.993836A>G, NC_000011.9:g.993836A>G, NT_187681.1:g.63277A>G, NT_187656.1:g.56579A>G, NM_012305.4:c.1633A>G, NM_012305.3:c.1633A>G, XM_011519930.4:c.1636A>G, XM_011519930.3:c.1636A>G, XM_011519930.2:c.1636A>G, XM_011519930.1:c.1636A>G, NM_001242837.2:c.1636A>G, NM_001242837.1:c.1636A>G, XM_011519929.2:c.1408A>G, XM_011519929.1:c.1408A>G, NR_144510.2:n.1788A>G, NR_144510.1:n.1849A>G, NR_144509.2:n.1785A>G, NR_144509.1:n.1846A>G, XM_047426480.1:c.1408A>G, XM_047426479.1:c.1408A>G, XM_047426482.1:c.1408A>G, XM_047426484.1:c.1405A>G, XM_047426485.1:c.1408A>G, XM_047426481.1:c.1408A>G, NP_036437.1:p.Ile545Val, XP_011518232.1:p.Ile546Val, NP_001229766.1:p.Ile546Val, XP_011518231.1:p.Ile470Val, XP_047282436.1:p.Ile470Val, XP_047282435.1:p.Ile470Val, XP_047282438.1:p.Ile470Val, XP_047282440.1:p.Ile469Val, XP_047282441.1:p.Ile470Val, XP_047282437.1:p.Ile470Val

Select item 14867530963.

rs1486753096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:984711 (GRCh38)
11:984711 (GRCh37)
Canonical SPDI:: NC_000011.10:984710:T:G
Gene:: AP2A2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.984711T>G, NC_000011.9:g.984711T>G, NT_187681.1:g.54152T>G, NT_187656.1:g.47454T>G, NM_012305.4:c.772T>G, NM_012305.3:c.772T>G, XM_011519930.4:c.772T>G, XM_011519930.3:c.772T>G, XM_011519930.2:c.772T>G, XM_011519930.1:c.772T>G, NM_001242837.2:c.772T>G, NM_001242837.1:c.772T>G, XM_011519929.2:c.544T>G, XM_011519929.1:c.544T>G, NR_144510.2:n.924T>G, NR_144510.1:n.985T>G, NR_144509.2:n.924T>G, NR_144509.1:n.985T>G, XM_047426480.1:c.544T>G, XM_047426479.1:c.544T>G, XM_047426482.1:c.544T>G, XM_047426484.1:c.544T>G, XM_047426485.1:c.544T>G, XM_047426481.1:c.544T>G, NP_036437.1:p.Ser258Ala, XP_011518232.1:p.Ser258Ala, NP_001229766.1:p.Ser258Ala, XP_011518231.1:p.Ser182Ala, XP_047282436.1:p.Ser182Ala, XP_047282435.1:p.Ser182Ala, XP_047282438.1:p.Ser182Ala, XP_047282440.1:p.Ser182Ala, XP_047282441.1:p.Ser182Ala, XP_047282437.1:p.Ser182Ala

Select item 14865071374.

rs1486507137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1009759 (GRCh38)
11:1009759 (GRCh37)
Canonical SPDI:: NC_000011.10:1009758:A:G
Gene:: AP2A2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.1009759A>G, NC_000011.9:g.1009759A>G, NT_187681.1:g.79350A>G, NT_187656.1:g.72502A>G, NM_012305.4:c.2684A>G, NM_012305.3:c.2684A>G, NM_001242837.2:c.2687A>G, NM_001242837.1:c.2687A>G, XM_011519929.2:c.2459A>G, XM_011519929.1:c.2459A>G, NR_144510.2:n.2672A>G, NR_144510.1:n.2733A>G, NR_144509.2:n.2669A>G, NR_144509.1:n.2730A>G, XM_047426480.1:c.2459A>G, XM_047426479.1:c.2459A>G, XM_047426482.1:c.2459A>G, XM_047426484.1:c.2456A>G, XM_047426485.1:c.2459A>G, XM_047426481.1:c.2459A>G, NP_036437.1:p.His895Arg, NP_001229766.1:p.His896Arg, XP_011518231.1:p.His820Arg, XP_047282436.1:p.His820Arg, XP_047282435.1:p.His820Arg, XP_047282438.1:p.His820Arg, XP_047282440.1:p.His819Arg, XP_047282441.1:p.His820Arg, XP_047282437.1:p.His820Arg

Select item 14820768955.

rs1482076895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:977215 (GRCh38)
11:977215 (GRCh37)
Canonical SPDI:: NC_000011.10:977214:C:T
Gene:: AP2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.977215C>T, NC_000011.9:g.977215C>T, NT_187681.1:g.46365C>T, NT_187656.1:g.39958C>T, NM_012305.4:c.594C>T, NM_012305.3:c.594C>T, XM_011519930.4:c.594C>T, XM_011519930.3:c.594C>T, XM_011519930.2:c.594C>T, XM_011519930.1:c.594C>T, NM_001242837.2:c.594C>T, NM_001242837.1:c.594C>T, XM_011519929.2:c.366C>T, XM_011519929.1:c.366C>T, NR_144510.2:n.746C>T, NR_144510.1:n.807C>T, NR_144509.2:n.746C>T, NR_144509.1:n.807C>T, XM_047426480.1:c.366C>T, XM_047426479.1:c.366C>T, XM_047426482.1:c.366C>T, XM_047426484.1:c.366C>T, XM_047426485.1:c.366C>T, XM_047426481.1:c.366C>T

Select item 14816405956.

rs1481640595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:1008040 (GRCh38)
11:1008040 (GRCh37)
Canonical SPDI:: NC_000011.10:1008039:C:A
Gene:: AP2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.1008040C>A, NC_000011.9:g.1008040C>A, NT_187681.1:g.77481C>A, NT_187656.1:g.70783C>A, NM_012305.4:c.2325C>A, NM_012305.3:c.2325C>A, NM_001242837.2:c.2328C>A, NM_001242837.1:c.2328C>A, XM_011519929.2:c.2100C>A, XM_011519929.1:c.2100C>A, NR_144510.2:n.2313C>A, NR_144510.1:n.2374C>A, NR_144509.2:n.2310C>A, NR_144509.1:n.2371C>A, XM_047426480.1:c.2100C>A, XM_047426479.1:c.2100C>A, XM_047426482.1:c.2100C>A, XM_047426484.1:c.2097C>A, XM_047426485.1:c.2100C>A, XM_047426481.1:c.2100C>A, NP_036437.1:p.Asp775Glu, NP_001229766.1:p.Asp776Glu, XP_011518231.1:p.Asp700Glu, XP_047282436.1:p.Asp700Glu, XP_047282435.1:p.Asp700Glu, XP_047282438.1:p.Asp700Glu, XP_047282440.1:p.Asp699Glu, XP_047282441.1:p.Asp700Glu, XP_047282437.1:p.Asp700Glu

Select item 14814123727.

rs1481412372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:985554 (GRCh38)
11:985554 (GRCh37)
Canonical SPDI:: NC_000011.10:985553:G:A,NC_000011.10:985553:G:T
Gene:: AP2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.985554G>A, NC_000011.10:g.985554G>T, NC_000011.9:g.985554G>A, NC_000011.9:g.985554G>T, NT_187681.1:g.54995G>A, NT_187681.1:g.54995G>T, NT_187656.1:g.48297G>A, NT_187656.1:g.48297G>T, NM_012305.4:c.934G>A, NM_012305.4:c.934G>T, NM_012305.3:c.934G>A, NM_012305.3:c.934G>T, XM_011519930.4:c.937G>A, XM_011519930.4:c.937G>T, XM_011519930.3:c.937G>A, XM_011519930.3:c.937G>T, XM_011519930.2:c.937G>A, XM_011519930.2:c.937G>T, XM_011519930.1:c.937G>A, XM_011519930.1:c.937G>T, NM_001242837.2:c.937G>A, NM_001242837.2:c.937G>T, NM_001242837.1:c.937G>A, NM_001242837.1:c.937G>T, XM_011519929.2:c.709G>A, XM_011519929.2:c.709G>T, XM_011519929.1:c.709G>A, XM_011519929.1:c.709G>T, NR_144510.2:n.1089G>A, NR_144510.2:n.1089G>T, NR_144510.1:n.1150G>A, NR_144510.1:n.1150G>T, NR_144509.2:n.1086G>A, NR_144509.2:n.1086G>T, NR_144509.1:n.1147G>A, NR_144509.1:n.1147G>T, XM_047426480.1:c.709G>A, XM_047426480.1:c.709G>T, XM_047426479.1:c.709G>A, XM_047426479.1:c.709G>T, XM_047426482.1:c.709G>A, XM_047426482.1:c.709G>T, XM_047426484.1:c.706G>A, XM_047426484.1:c.706G>T, XM_047426485.1:c.709G>A, XM_047426485.1:c.709G>T, XM_047426481.1:c.709G>A, XM_047426481.1:c.709G>T, NP_036437.1:p.Ala312Thr, NP_036437.1:p.Ala312Ser, XP_011518232.1:p.Ala313Thr, XP_011518232.1:p.Ala313Ser, NP_001229766.1:p.Ala313Thr, NP_001229766.1:p.Ala313Ser, XP_011518231.1:p.Ala237Thr, XP_011518231.1:p.Ala237Ser, XP_047282436.1:p.Ala237Thr, XP_047282436.1:p.Ala237Ser, XP_047282435.1:p.Ala237Thr, XP_047282435.1:p.Ala237Ser, XP_047282438.1:p.Ala237Thr, XP_047282438.1:p.Ala237Ser, XP_047282440.1:p.Ala236Thr, XP_047282440.1:p.Ala236Ser, XP_047282441.1:p.Ala237Thr, XP_047282441.1:p.Ala237Ser, XP_047282437.1:p.Ala237Thr, XP_047282437.1:p.Ala237Ser

Select item 14798828498.

rs1479882849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1008128 (GRCh38)
11:1008128 (GRCh37)
Canonical SPDI:: NC_000011.10:1008127:C:T
Gene:: AP2A2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.1008128C>T, NC_000011.9:g.1008128C>T, NT_187681.1:g.77569C>T, NT_187656.1:g.70871C>T, NM_012305.4:c.2413C>T, NM_012305.3:c.2413C>T, NM_001242837.2:c.2416C>T, NM_001242837.1:c.2416C>T, XM_011519929.2:c.2188C>T, XM_011519929.1:c.2188C>T, NR_144510.2:n.2401C>T, NR_144510.1:n.2462C>T, NR_144509.2:n.2398C>T, NR_144509.1:n.2459C>T, XM_047426480.1:c.2188C>T, XM_047426479.1:c.2188C>T, XM_047426482.1:c.2188C>T, XM_047426484.1:c.2185C>T, XM_047426485.1:c.2188C>T, XM_047426481.1:c.2188C>T, NP_036437.1:p.Gln805Ter, NP_001229766.1:p.Gln806Ter, XP_011518231.1:p.Gln730Ter, XP_047282436.1:p.Gln730Ter, XP_047282435.1:p.Gln730Ter, XP_047282438.1:p.Gln730Ter, XP_047282440.1:p.Gln729Ter, XP_047282441.1:p.Gln730Ter, XP_047282437.1:p.Gln730Ter

Select item 14771298429.

rs1477129842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:992676 (GRCh38)
11:992676 (GRCh37)
Canonical SPDI:: NC_000011.10:992675:T:G
Gene:: AP2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.992676T>G, NC_000011.9:g.992676T>G, NT_187681.1:g.62117T>G, NT_187656.1:g.55419T>G, NM_012305.4:c.1443T>G, NM_012305.3:c.1443T>G, XM_011519930.4:c.1446T>G, XM_011519930.3:c.1446T>G, XM_011519930.2:c.1446T>G, XM_011519930.1:c.1446T>G, NM_001242837.2:c.1446T>G, NM_001242837.1:c.1446T>G, XM_011519929.2:c.1218T>G, XM_011519929.1:c.1218T>G, NR_144510.2:n.1598T>G, NR_144510.1:n.1659T>G, NR_144509.2:n.1595T>G, NR_144509.1:n.1656T>G, XM_047426480.1:c.1218T>G, XM_047426479.1:c.1218T>G, XM_047426482.1:c.1218T>G, XM_047426484.1:c.1215T>G, XM_047426485.1:c.1218T>G, XM_047426481.1:c.1218T>G

Select item 147540492910.

rs1475404929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1006557 (GRCh38)
11:1006557 (GRCh37)
Canonical SPDI:: NC_000011.10:1006556:A:G
Gene:: AP2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1006557A>G, NC_000011.9:g.1006557A>G, NT_187681.1:g.75998A>G, NT_187656.1:g.69300A>G, NM_012305.4:c.2236A>G, NM_012305.3:c.2236A>G, NM_001242837.2:c.2239A>G, NM_001242837.1:c.2239A>G, XM_011519929.2:c.2011A>G, XM_011519929.1:c.2011A>G, NR_144510.2:n.2224A>G, NR_144510.1:n.2285A>G, NR_144509.2:n.2221A>G, NR_144509.1:n.2282A>G, XM_047426480.1:c.2011A>G, XM_047426479.1:c.2011A>G, XM_047426482.1:c.2011A>G, XM_047426484.1:c.2008A>G, XM_047426485.1:c.2011A>G, XM_047426481.1:c.2011A>G, NP_036437.1:p.Thr746Ala, NP_001229766.1:p.Thr747Ala, XP_011518231.1:p.Thr671Ala, XP_047282436.1:p.Thr671Ala, XP_047282435.1:p.Thr671Ala, XP_047282438.1:p.Thr671Ala, XP_047282440.1:p.Thr670Ala, XP_047282441.1:p.Thr671Ala, XP_047282437.1:p.Thr671Ala

Select item 147363909911.

rs1473639099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:993321 (GRCh38)
11:993321 (GRCh37)
Canonical SPDI:: NC_000011.10:993320:A:C
Gene:: AP2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.993321A>C, NC_000011.9:g.993321A>C, NT_187681.1:g.62762A>C, NT_187656.1:g.56064A>C, NM_012305.4:c.1490A>C, NM_012305.3:c.1490A>C, XM_011519930.4:c.1493A>C, XM_011519930.3:c.1493A>C, XM_011519930.2:c.1493A>C, XM_011519930.1:c.1493A>C, NM_001242837.2:c.1493A>C, NM_001242837.1:c.1493A>C, XM_011519929.2:c.1265A>C, XM_011519929.1:c.1265A>C, NR_144510.2:n.1645A>C, NR_144510.1:n.1706A>C, NR_144509.2:n.1642A>C, NR_144509.1:n.1703A>C, XM_047426480.1:c.1265A>C, XM_047426479.1:c.1265A>C, XM_047426482.1:c.1265A>C, XM_047426484.1:c.1262A>C, XM_047426485.1:c.1265A>C, XM_047426481.1:c.1265A>C, NP_036437.1:p.Lys497Thr, XP_011518232.1:p.Lys498Thr, NP_001229766.1:p.Lys498Thr, XP_011518231.1:p.Lys422Thr, XP_047282436.1:p.Lys422Thr, XP_047282435.1:p.Lys422Thr, XP_047282438.1:p.Lys422Thr, XP_047282440.1:p.Lys421Thr, XP_047282441.1:p.Lys422Thr, XP_047282437.1:p.Lys422Thr

Select item 147214518612.

rs1472145186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1003742 (GRCh38)
11:1003742 (GRCh37)
Canonical SPDI:: NC_000011.10:1003741:G:A
Gene:: AP2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1003742G>A, NC_000011.9:g.1003742G>A, NT_187681.1:g.73183G>A, NT_187656.1:g.66485G>A, NM_012305.4:c.2144G>A, NM_012305.3:c.2144G>A, NM_001242837.2:c.2147G>A, NM_001242837.1:c.2147G>A, XM_011519929.2:c.1919G>A, XM_011519929.1:c.1919G>A, NR_144510.2:n.2132G>A, NR_144510.1:n.2193G>A, NR_144509.2:n.2129G>A, NR_144509.1:n.2190G>A, XM_047426480.1:c.1919G>A, XM_047426479.1:c.1919G>A, XM_047426482.1:c.1919G>A, XM_047426484.1:c.1916G>A, XM_047426485.1:c.1919G>A, XM_047426481.1:c.1919G>A, NP_036437.1:p.Gly715Asp, NP_001229766.1:p.Gly716Asp, XP_011518231.1:p.Gly640Asp, XP_047282436.1:p.Gly640Asp, XP_047282435.1:p.Gly640Asp, XP_047282438.1:p.Gly640Asp, XP_047282440.1:p.Gly639Asp, XP_047282441.1:p.Gly640Asp, XP_047282437.1:p.Gly640Asp

Select item 147072828113.

rs1470728281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1006592 (GRCh38)
11:1006592 (GRCh37)
Canonical SPDI:: NC_000011.10:1006591:A:G
Gene:: AP2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.1006592A>G, NC_000011.9:g.1006592A>G, NT_187681.1:g.76033A>G, NT_187656.1:g.69335A>G, NM_012305.4:c.2271A>G, NM_012305.3:c.2271A>G, NM_001242837.2:c.2274A>G, NM_001242837.1:c.2274A>G, XM_011519929.2:c.2046A>G, XM_011519929.1:c.2046A>G, NR_144510.2:n.2259A>G, NR_144510.1:n.2320A>G, NR_144509.2:n.2256A>G, NR_144509.1:n.2317A>G, XM_047426480.1:c.2046A>G, XM_047426479.1:c.2046A>G, XM_047426482.1:c.2046A>G, XM_047426484.1:c.2043A>G, XM_047426485.1:c.2046A>G, XM_047426481.1:c.2046A>G

Select item 147033704014.

rs1470337040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:1003798 (GRCh38)
11:1003798 (GRCh37)
Canonical SPDI:: NC_000011.10:1003797:A:C
Gene:: AP2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1003798A>C, NC_000011.9:g.1003798A>C, NT_187681.1:g.73239A>C, NT_187656.1:g.66541A>C, NM_012305.4:c.2200A>C, NM_012305.3:c.2200A>C, NM_001242837.2:c.2203A>C, NM_001242837.1:c.2203A>C, XM_011519929.2:c.1975A>C, XM_011519929.1:c.1975A>C, NR_144510.2:n.2188A>C, NR_144510.1:n.2249A>C, NR_144509.2:n.2185A>C, NR_144509.1:n.2246A>C, XM_047426480.1:c.1975A>C, XM_047426479.1:c.1975A>C, XM_047426482.1:c.1975A>C, XM_047426484.1:c.1972A>C, XM_047426485.1:c.1975A>C, XM_047426481.1:c.1975A>C, NP_036437.1:p.Asn734His, NP_001229766.1:p.Asn735His, XP_011518231.1:p.Asn659His, XP_047282436.1:p.Asn659His, XP_047282435.1:p.Asn659His, XP_047282438.1:p.Asn659His, XP_047282440.1:p.Asn658His, XP_047282441.1:p.Asn659His, XP_047282437.1:p.Asn659His

Select item 146982331315.

rs1469823313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:986881 (GRCh38)
11:986881 (GRCh37)
Canonical SPDI:: NC_000011.10:986880:C:T
Gene:: AP2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.986881C>T, NC_000011.9:g.986881C>T, NT_187681.1:g.56322C>T, NT_187656.1:g.49624C>T, NM_012305.4:c.1059C>T, NM_012305.3:c.1059C>T, XM_011519930.4:c.1062C>T, XM_011519930.3:c.1062C>T, XM_011519930.2:c.1062C>T, XM_011519930.1:c.1062C>T, NM_001242837.2:c.1062C>T, NM_001242837.1:c.1062C>T, XM_011519929.2:c.834C>T, XM_011519929.1:c.834C>T, NR_144510.2:n.1214C>T, NR_144510.1:n.1275C>T, NR_144509.2:n.1211C>T, NR_144509.1:n.1272C>T, XM_047426480.1:c.834C>T, XM_047426479.1:c.834C>T, XM_047426482.1:c.834C>T, XM_047426484.1:c.831C>T, XM_047426485.1:c.834C>T, XM_047426481.1:c.834C>T

Select item 146977168016.

rs1469771680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:986843 (GRCh38)
11:986843 (GRCh37)
Canonical SPDI:: NC_000011.10:986842:G:A
Gene:: AP2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.986843G>A, NC_000011.9:g.986843G>A, NT_187681.1:g.56284G>A, NT_187656.1:g.49586G>A, NM_012305.4:c.1021G>A, NM_012305.3:c.1021G>A, XM_011519930.4:c.1024G>A, XM_011519930.3:c.1024G>A, XM_011519930.2:c.1024G>A, XM_011519930.1:c.1024G>A, NM_001242837.2:c.1024G>A, NM_001242837.1:c.1024G>A, XM_011519929.2:c.796G>A, XM_011519929.1:c.796G>A, NR_144510.2:n.1176G>A, NR_144510.1:n.1237G>A, NR_144509.2:n.1173G>A, NR_144509.1:n.1234G>A, XM_047426480.1:c.796G>A, XM_047426479.1:c.796G>A, XM_047426482.1:c.796G>A, XM_047426484.1:c.793G>A, XM_047426485.1:c.796G>A, XM_047426481.1:c.796G>A, NP_036437.1:p.Glu341Lys, XP_011518232.1:p.Glu342Lys, NP_001229766.1:p.Glu342Lys, XP_011518231.1:p.Glu266Lys, XP_047282436.1:p.Glu266Lys, XP_047282435.1:p.Glu266Lys, XP_047282438.1:p.Glu266Lys, XP_047282440.1:p.Glu265Lys, XP_047282441.1:p.Glu266Lys, XP_047282437.1:p.Glu266Lys

Select item 146956324517.

rs1469563245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1000578 (GRCh38)
11:1000578 (GRCh37)
Canonical SPDI:: NC_000011.10:1000577:C:T
Gene:: AP2A2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.1000578C>T, NC_000011.9:g.1000578C>T, NT_187681.1:g.70019C>T, NT_187656.1:g.63321C>T, NM_012305.4:c.2103C>T, NM_012305.3:c.2103C>T, NM_001242837.2:c.2106C>T, NM_001242837.1:c.2106C>T, XM_011519929.2:c.1878C>T, XM_011519929.1:c.1878C>T, XM_047426480.1:c.1878C>T, XM_047426479.1:c.1878C>T, XM_047426482.1:c.1878C>T, XM_047426484.1:c.1875C>T, XM_047426485.1:c.1878C>T, XM_047426481.1:c.1878C>T

Select item 146887091618.

rs1468870916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:977138 (GRCh38)
11:977138 (GRCh37)
Canonical SPDI:: NC_000011.10:977137:C:T
Gene:: AP2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.977138C>T, NC_000011.9:g.977138C>T, NT_187681.1:g.46288C>T, NT_187656.1:g.39881C>T, NM_012305.4:c.517C>T, NM_012305.3:c.517C>T, XM_011519930.4:c.517C>T, XM_011519930.3:c.517C>T, XM_011519930.2:c.517C>T, XM_011519930.1:c.517C>T, NM_001242837.2:c.517C>T, NM_001242837.1:c.517C>T, XM_011519929.2:c.289C>T, XM_011519929.1:c.289C>T, NR_144510.2:n.669C>T, NR_144510.1:n.730C>T, NR_144509.2:n.669C>T, NR_144509.1:n.730C>T, XM_047426480.1:c.289C>T, XM_047426479.1:c.289C>T, XM_047426482.1:c.289C>T, XM_047426484.1:c.289C>T, XM_047426485.1:c.289C>T, XM_047426481.1:c.289C>T

Select item 146874066019.

rs1468740660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:985442 (GRCh38)
11:985442 (GRCh37)
Canonical SPDI:: NC_000011.10:985441:A:G
Gene:: AP2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.985442A>G, NC_000011.9:g.985442A>G, NT_187681.1:g.54883A>G, NT_187656.1:g.48185A>G, NM_012305.4:c.822A>G, NM_012305.3:c.822A>G, XM_011519930.4:c.825A>G, XM_011519930.3:c.825A>G, XM_011519930.2:c.825A>G, XM_011519930.1:c.825A>G, NM_001242837.2:c.825A>G, NM_001242837.1:c.825A>G, XM_011519929.2:c.597A>G, XM_011519929.1:c.597A>G, NR_144510.2:n.977A>G, NR_144510.1:n.1038A>G, NR_144509.2:n.974A>G, NR_144509.1:n.1035A>G, XM_047426480.1:c.597A>G, XM_047426479.1:c.597A>G, XM_047426482.1:c.597A>G, XM_047426484.1:c.594A>G, XM_047426485.1:c.597A>G, XM_047426481.1:c.597A>G

Select item 146776882720.

rs1467768827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1009740 (GRCh38)
11:1009740 (GRCh37)
Canonical SPDI:: NC_000011.10:1009739:G:A
Gene:: AP2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.1009740G>A, NC_000011.9:g.1009740G>A, NT_187681.1:g.79331G>A, NT_187656.1:g.72483G>A, NM_012305.4:c.2665G>A, NM_012305.3:c.2665G>A, NM_001242837.2:c.2668G>A, NM_001242837.1:c.2668G>A, XM_011519929.2:c.2440G>A, XM_011519929.1:c.2440G>A, NR_144510.2:n.2653G>A, NR_144510.1:n.2714G>A, NR_144509.2:n.2650G>A, NR_144509.1:n.2711G>A, XM_047426480.1:c.2440G>A, XM_047426479.1:c.2440G>A, XM_047426482.1:c.2440G>A, XM_047426484.1:c.2437G>A, XM_047426485.1:c.2440G>A, XM_047426481.1:c.2440G>A, NP_036437.1:p.Val889Met, NP_001229766.1:p.Val890Met, XP_011518231.1:p.Val814Met, XP_047282436.1:p.Val814Met, XP_047282435.1:p.Val814Met, XP_047282438.1:p.Val814Met, XP_047282440.1:p.Val813Met, XP_047282441.1:p.Val814Met, XP_047282437.1:p.Val814Met

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dbSNP

Result Filters

Validation Status

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Global MAF

Custom range

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Display Settings:

Links from Protein

Items: 1 to 20 of 807

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