SNP Links for Protein (Select 1034555546) - SNP

Select item 14859233331.

rs1485923333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202602027 (GRCh38)
1:202571155 (GRCh37)
Canonical SPDI:: NC_000001.11:202602026:G:T
Gene:: SYT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.202602027G>T, NC_000001.10:g.202571155G>T, NG_041776.1:g.113397C>A, NM_177402.5:c.664C>A, NM_177402.4:c.664C>A, NM_001136504.1:c.664C>A, XM_017000309.3:c.844C>A, XM_017000309.2:c.844C>A, XM_017000309.1:c.844C>A, XM_017000310.3:c.835C>A, XM_017000310.2:c.835C>A, XM_017000310.1:c.835C>A, XM_011509192.3:c.673C>A, XM_011509192.2:c.673C>A, XM_011509192.1:c.673C>A, XM_017000311.3:c.673C>A, XM_017000311.2:c.673C>A, XM_017000311.1:c.673C>A, XM_017000312.2:c.673C>A, XM_017000312.1:c.673C>A, XM_017000313.2:c.664C>A, XM_017000313.1:c.664C>A, NP_796376.2:p.Leu222Met, NP_001129976.1:p.Leu222Met, XP_016855798.1:p.Leu282Met, XP_016855799.1:p.Leu279Met, XP_011507494.1:p.Leu225Met, XP_016855800.1:p.Leu225Met, XP_016855801.1:p.Leu225Met, XP_016855802.1:p.Leu222Met

Select item 14840336412.

rs1484033641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202603094 (GRCh38)
1:202572222 (GRCh37)
Canonical SPDI:: NC_000001.11:202603093:G:T
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202603094G>T, NC_000001.10:g.202572222G>T, NG_041776.1:g.112330C>A, NM_177402.5:c.370C>A, NM_177402.4:c.370C>A, NM_001136504.1:c.370C>A, XM_017000309.3:c.550C>A, XM_017000309.2:c.550C>A, XM_017000309.1:c.550C>A, XM_017000310.3:c.541C>A, XM_017000310.2:c.541C>A, XM_017000310.1:c.541C>A, XM_011509192.3:c.379C>A, XM_011509192.2:c.379C>A, XM_011509192.1:c.379C>A, XM_017000311.3:c.379C>A, XM_017000311.2:c.379C>A, XM_017000311.1:c.379C>A, XM_017000312.2:c.379C>A, XM_017000312.1:c.379C>A, XM_017000313.2:c.370C>A, XM_017000313.1:c.370C>A, NP_796376.2:p.Leu124Met, NP_001129976.1:p.Leu124Met, XP_016855798.1:p.Leu184Met, XP_016855799.1:p.Leu181Met, XP_011507494.1:p.Leu127Met, XP_016855800.1:p.Leu127Met, XP_016855801.1:p.Leu127Met, XP_016855802.1:p.Leu124Met

Select item 14832513463.

rs1483251346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:202605851 (GRCh38)
1:202574979 (GRCh37)
Canonical SPDI:: NC_000001.11:202605850:C:A
Gene:: SYT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.202605851C>A, NC_000001.10:g.202574979C>A, NG_041776.1:g.109573G>T, XM_017000309.3:c.93G>T, XM_017000309.2:c.93G>T, XM_017000309.1:c.93G>T, XM_017000310.3:c.93G>T, XM_017000310.2:c.93G>T, XM_017000310.1:c.93G>T

Select item 14806841154.

rs1480684115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:202604590 (GRCh38)
1:202573718 (GRCh37)
Canonical SPDI:: NC_000001.11:202604589:C:A
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.202604590C>A, NC_000001.10:g.202573718C>A, NG_041776.1:g.110834G>T, NM_177402.5:c.210G>T, NM_177402.4:c.210G>T, NM_001136504.1:c.210G>T, XM_017000309.3:c.381G>T, XM_017000309.2:c.381G>T, XM_017000309.1:c.381G>T, XM_017000310.3:c.381G>T, XM_017000310.2:c.381G>T, XM_017000310.1:c.381G>T, XM_011509192.3:c.210G>T, XM_011509192.2:c.210G>T, XM_011509192.1:c.210G>T, XM_017000311.3:c.210G>T, XM_017000311.2:c.210G>T, XM_017000311.1:c.210G>T, XM_017000312.2:c.210G>T, XM_017000312.1:c.210G>T, XM_017000313.2:c.210G>T, XM_017000313.1:c.210G>T

Select item 14767735415.

rs1476773541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:202599294 (GRCh38)
1:202568422 (GRCh37)
Canonical SPDI:: NC_000001.11:202599293:G:A,NC_000001.11:202599293:G:T
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.202599294G>A, NC_000001.11:g.202599294G>T, NC_000001.10:g.202568422G>A, NC_000001.10:g.202568422G>T, NG_041776.1:g.116130C>T, NG_041776.1:g.116130C>A, NM_177402.5:c.977C>T, NM_177402.5:c.977C>A, NM_177402.4:c.977C>T, NM_177402.4:c.977C>A, NM_001136504.1:c.977C>T, NM_001136504.1:c.977C>A, XM_017000309.3:c.1157C>T, XM_017000309.3:c.1157C>A, XM_017000309.2:c.1157C>T, XM_017000309.2:c.1157C>A, XM_017000309.1:c.1157C>T, XM_017000309.1:c.1157C>A, XM_017000310.3:c.1148C>T, XM_017000310.3:c.1148C>A, XM_017000310.2:c.1148C>T, XM_017000310.2:c.1148C>A, XM_017000310.1:c.1148C>T, XM_017000310.1:c.1148C>A, XM_011509192.3:c.986C>T, XM_011509192.3:c.986C>A, XM_011509192.2:c.986C>T, XM_011509192.2:c.986C>A, XM_011509192.1:c.986C>T, XM_011509192.1:c.986C>A, XM_017000311.3:c.986C>T, XM_017000311.3:c.986C>A, XM_017000311.2:c.986C>T, XM_017000311.2:c.986C>A, XM_017000311.1:c.986C>T, XM_017000311.1:c.986C>A, XM_017000312.2:c.986C>T, XM_017000312.2:c.986C>A, XM_017000312.1:c.986C>T, XM_017000312.1:c.986C>A, XM_017000313.2:c.977C>T, XM_017000313.2:c.977C>A, XM_017000313.1:c.977C>T, XM_017000313.1:c.977C>A, NP_796376.2:p.Thr326Ile, NP_796376.2:p.Thr326Lys, NP_001129976.1:p.Thr326Ile, NP_001129976.1:p.Thr326Lys, XP_016855798.1:p.Thr386Ile, XP_016855798.1:p.Thr386Lys, XP_016855799.1:p.Thr383Ile, XP_016855799.1:p.Thr383Lys, XP_011507494.1:p.Thr329Ile, XP_011507494.1:p.Thr329Lys, XP_016855800.1:p.Thr329Ile, XP_016855800.1:p.Thr329Lys, XP_016855801.1:p.Thr329Ile, XP_016855801.1:p.Thr329Lys, XP_016855802.1:p.Thr326Ile, XP_016855802.1:p.Thr326Lys

Select item 14744901206.

rs1474490120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:202603100 (GRCh38)
1:202572228 (GRCh37)
Canonical SPDI:: NC_000001.11:202603099:T:C
Gene:: SYT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202603100T>C, NC_000001.10:g.202572228T>C, NG_041776.1:g.112324A>G, NM_177402.5:c.364A>G, NM_177402.4:c.364A>G, NM_001136504.1:c.364A>G, XM_017000309.3:c.544A>G, XM_017000309.2:c.544A>G, XM_017000309.1:c.544A>G, XM_017000310.3:c.535A>G, XM_017000310.2:c.535A>G, XM_017000310.1:c.535A>G, XM_011509192.3:c.373A>G, XM_011509192.2:c.373A>G, XM_011509192.1:c.373A>G, XM_017000311.3:c.373A>G, XM_017000311.2:c.373A>G, XM_017000311.1:c.373A>G, XM_017000312.2:c.373A>G, XM_017000312.1:c.373A>G, XM_017000313.2:c.364A>G, XM_017000313.1:c.364A>G, NP_796376.2:p.Thr122Ala, NP_001129976.1:p.Thr122Ala, XP_016855798.1:p.Thr182Ala, XP_016855799.1:p.Thr179Ala, XP_011507494.1:p.Thr125Ala, XP_016855800.1:p.Thr125Ala, XP_016855801.1:p.Thr125Ala, XP_016855802.1:p.Thr122Ala

Select item 14717968247.

rs1471796824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:202603057 (GRCh38)
1:202572185 (GRCh37)
Canonical SPDI:: NC_000001.11:202603056:T:C
Gene:: SYT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.202603057T>C, NC_000001.10:g.202572185T>C, NG_041776.1:g.112367A>G, NM_177402.5:c.407A>G, NM_177402.4:c.407A>G, NM_001136504.1:c.407A>G, XM_017000309.3:c.587A>G, XM_017000309.2:c.587A>G, XM_017000309.1:c.587A>G, XM_017000310.3:c.578A>G, XM_017000310.2:c.578A>G, XM_017000310.1:c.578A>G, XM_011509192.3:c.416A>G, XM_011509192.2:c.416A>G, XM_011509192.1:c.416A>G, XM_017000311.3:c.416A>G, XM_017000311.2:c.416A>G, XM_017000311.1:c.416A>G, XM_017000312.2:c.416A>G, XM_017000312.1:c.416A>G, XM_017000313.2:c.407A>G, XM_017000313.1:c.407A>G, NP_796376.2:p.Glu136Gly, NP_001129976.1:p.Glu136Gly, XP_016855798.1:p.Glu196Gly, XP_016855799.1:p.Glu193Gly, XP_011507494.1:p.Glu139Gly, XP_016855800.1:p.Glu139Gly, XP_016855801.1:p.Glu139Gly, XP_016855802.1:p.Glu136Gly

Select item 14688324748.

rs1468832474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202600448 (GRCh38)
1:202569576 (GRCh37)
Canonical SPDI:: NC_000001.11:202600447:G:T
Gene:: SYT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.202600448G>T, NC_000001.10:g.202569576G>T, NG_041776.1:g.114976C>A, NM_177402.5:c.828C>A, NM_177402.4:c.828C>A, NM_001136504.1:c.828C>A, XM_017000309.3:c.1008C>A, XM_017000309.2:c.1008C>A, XM_017000309.1:c.1008C>A, XM_017000310.3:c.999C>A, XM_017000310.2:c.999C>A, XM_017000310.1:c.999C>A, XM_011509192.3:c.837C>A, XM_011509192.2:c.837C>A, XM_011509192.1:c.837C>A, XM_017000311.3:c.837C>A, XM_017000311.2:c.837C>A, XM_017000311.1:c.837C>A, XM_017000312.2:c.837C>A, XM_017000312.1:c.837C>A, XM_017000313.2:c.828C>A, XM_017000313.1:c.828C>A

Select item 14655762569.

rs1465576256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:202600385 (GRCh38)
1:202569513 (GRCh37)
Canonical SPDI:: NC_000001.11:202600384:G:T
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202600385G>T, NC_000001.10:g.202569513G>T, NG_041776.1:g.115039C>A, NM_177402.5:c.891C>A, NM_177402.4:c.891C>A, NM_001136504.1:c.891C>A, XM_017000309.3:c.1071C>A, XM_017000309.2:c.1071C>A, XM_017000309.1:c.1071C>A, XM_017000310.3:c.1062C>A, XM_017000310.2:c.1062C>A, XM_017000310.1:c.1062C>A, XM_011509192.3:c.900C>A, XM_011509192.2:c.900C>A, XM_011509192.1:c.900C>A, XM_017000311.3:c.900C>A, XM_017000311.2:c.900C>A, XM_017000311.1:c.900C>A, XM_017000312.2:c.900C>A, XM_017000312.1:c.900C>A, XM_017000313.2:c.891C>A, XM_017000313.1:c.891C>A

Select item 145687653910.

rs1456876539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:202596823 (GRCh38)
1:202565951 (GRCh37)
Canonical SPDI:: NC_000001.11:202596822:G:A
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202596823G>A, NC_000001.10:g.202565951G>A, NG_041776.1:g.118601C>T, NM_177402.5:c.1194C>T, NM_177402.4:c.1194C>T, NM_001136504.1:c.1194C>T, XM_017000309.3:c.1374C>T, XM_017000309.2:c.1374C>T, XM_017000309.1:c.1374C>T, XM_017000310.3:c.1365C>T, XM_017000310.2:c.1365C>T, XM_017000310.1:c.1365C>T, XM_011509192.3:c.1203C>T, XM_011509192.2:c.1203C>T, XM_011509192.1:c.1203C>T, XM_017000311.3:c.1203C>T, XM_017000311.2:c.1203C>T, XM_017000311.1:c.1203C>T, XM_017000312.2:c.1203C>T, XM_017000312.1:c.1203C>T, XM_017000313.2:c.1194C>T, XM_017000313.1:c.1194C>T

Select item 145685353511.

rs1456853535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:202603007 (GRCh38)
1:202572135 (GRCh37)
Canonical SPDI:: NC_000001.11:202603006:C:A
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.202603007C>A, NC_000001.10:g.202572135C>A, NG_041776.1:g.112417G>T, NM_177402.5:c.457G>T, NM_177402.4:c.457G>T, NM_001136504.1:c.457G>T, XM_017000309.3:c.637G>T, XM_017000309.2:c.637G>T, XM_017000309.1:c.637G>T, XM_017000310.3:c.628G>T, XM_017000310.2:c.628G>T, XM_017000310.1:c.628G>T, XM_011509192.3:c.466G>T, XM_011509192.2:c.466G>T, XM_011509192.1:c.466G>T, XM_017000311.3:c.466G>T, XM_017000311.2:c.466G>T, XM_017000311.1:c.466G>T, XM_017000312.2:c.466G>T, XM_017000312.1:c.466G>T, XM_017000313.2:c.457G>T, XM_017000313.1:c.457G>T, NP_796376.2:p.Ala153Ser, NP_001129976.1:p.Ala153Ser, XP_016855798.1:p.Ala213Ser, XP_016855799.1:p.Ala210Ser, XP_011507494.1:p.Ala156Ser, XP_016855800.1:p.Ala156Ser, XP_016855801.1:p.Ala156Ser, XP_016855802.1:p.Ala153Ser

Select item 145343521012.

rs1453435210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:202605783 (GRCh38)
1:202574911 (GRCh37)
Canonical SPDI:: NC_000001.11:202605782:G:A
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202605783G>A, NC_000001.10:g.202574911G>A, NG_041776.1:g.109641C>T, NM_177402.5:c.-11C>T, NM_177402.4:c.-11C>T, NM_001136504.1:c.-11C>T, XM_017000309.3:c.161C>T, XM_017000309.2:c.161C>T, XM_017000309.1:c.161C>T, XM_017000310.3:c.161C>T, XM_017000310.2:c.161C>T, XM_017000310.1:c.161C>T, XM_011509192.3:c.-11C>T, XM_011509192.2:c.-11C>T, XM_011509192.1:c.-11C>T, XM_017000311.3:c.-11C>T, XM_017000311.2:c.-11C>T, XM_017000311.1:c.-11C>T, XM_017000312.2:c.-11C>T, XM_017000312.1:c.-11C>T, XM_017000313.2:c.-11C>T, XM_017000313.1:c.-11C>T, XP_016855798.1:p.Ser54Phe, XP_016855799.1:p.Ser54Phe

Select item 145343261813.

rs1453432618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:202596950 (GRCh38)
1:202566078 (GRCh37)
Canonical SPDI:: NC_000001.11:202596949:A:G
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202596950A>G, NC_000001.10:g.202566078A>G, NG_041776.1:g.118474T>C, NM_177402.5:c.1067T>C, NM_177402.4:c.1067T>C, NM_001136504.1:c.1067T>C, XM_017000309.3:c.1247T>C, XM_017000309.2:c.1247T>C, XM_017000309.1:c.1247T>C, XM_017000310.3:c.1238T>C, XM_017000310.2:c.1238T>C, XM_017000310.1:c.1238T>C, XM_011509192.3:c.1076T>C, XM_011509192.2:c.1076T>C, XM_011509192.1:c.1076T>C, XM_017000311.3:c.1076T>C, XM_017000311.2:c.1076T>C, XM_017000311.1:c.1076T>C, XM_017000312.2:c.1076T>C, XM_017000312.1:c.1076T>C, XM_017000313.2:c.1067T>C, XM_017000313.1:c.1067T>C, NP_796376.2:p.Val356Ala, NP_001129976.1:p.Val356Ala, XP_016855798.1:p.Val416Ala, XP_016855799.1:p.Val413Ala, XP_011507494.1:p.Val359Ala, XP_016855800.1:p.Val359Ala, XP_016855801.1:p.Val359Ala, XP_016855802.1:p.Val356Ala

Select item 145310805414.

rs1453108054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:202605824 (GRCh38)
1:202574952 (GRCh37)
Canonical SPDI:: NC_000001.11:202605823:T:A
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.202605824T>A, NC_000001.10:g.202574952T>A, NG_041776.1:g.109600A>T, XM_017000309.3:c.120A>T, XM_017000309.2:c.120A>T, XM_017000309.1:c.120A>T, XM_017000310.3:c.120A>T, XM_017000310.2:c.120A>T, XM_017000310.1:c.120A>T

Select item 145308306215.

rs1453083062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:202605796 (GRCh38)
1:202574924 (GRCh37)
Canonical SPDI:: NC_000001.11:202605795:A:G
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.202605796A>G, NC_000001.10:g.202574924A>G, NG_041776.1:g.109628T>C, XM_017000309.3:c.148T>C, XM_017000309.2:c.148T>C, XM_017000309.1:c.148T>C, XM_017000310.3:c.148T>C, XM_017000310.2:c.148T>C, XM_017000310.1:c.148T>C, XP_016855798.1:p.Ser50Pro, XP_016855799.1:p.Ser50Pro

Select item 145301725216.

rs1453017252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:202596783 (GRCh38)
1:202565911 (GRCh37)
Canonical SPDI:: NC_000001.11:202596782:C:T
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.202596783C>T, NC_000001.10:g.202565911C>T, NG_041776.1:g.118641G>A, NM_177402.5:c.1234G>A, NM_177402.4:c.1234G>A, NM_001136504.1:c.1234G>A, XM_017000309.3:c.1414G>A, XM_017000309.2:c.1414G>A, XM_017000309.1:c.1414G>A, XM_017000310.3:c.1405G>A, XM_017000310.2:c.1405G>A, XM_017000310.1:c.1405G>A, XM_011509192.3:c.1243G>A, XM_011509192.2:c.1243G>A, XM_011509192.1:c.1243G>A, XM_017000311.3:c.1243G>A, XM_017000311.2:c.1243G>A, XM_017000311.1:c.1243G>A, XM_017000312.2:c.1243G>A, XM_017000312.1:c.1243G>A, XM_017000313.2:c.1234G>A, XM_017000313.1:c.1234G>A, NP_796376.2:p.Asp412Asn, NP_001129976.1:p.Asp412Asn, XP_016855798.1:p.Asp472Asn, XP_016855799.1:p.Asp469Asn, XP_011507494.1:p.Asp415Asn, XP_016855800.1:p.Asp415Asn, XP_016855801.1:p.Asp415Asn, XP_016855802.1:p.Asp412Asn

Select item 144904331317.

rs1449043313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:202603112 (GRCh38)
1:202572240 (GRCh37)
Canonical SPDI:: NC_000001.11:202603111:C:T
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.202603112C>T, NC_000001.10:g.202572240C>T, NG_041776.1:g.112312G>A, NM_177402.5:c.352G>A, NM_177402.4:c.352G>A, NM_001136504.1:c.352G>A, XM_017000309.3:c.532G>A, XM_017000309.2:c.532G>A, XM_017000309.1:c.532G>A, XM_017000310.3:c.523G>A, XM_017000310.2:c.523G>A, XM_017000310.1:c.523G>A, XM_011509192.3:c.361G>A, XM_011509192.2:c.361G>A, XM_011509192.1:c.361G>A, XM_017000311.3:c.361G>A, XM_017000311.2:c.361G>A, XM_017000311.1:c.361G>A, XM_017000312.2:c.361G>A, XM_017000312.1:c.361G>A, XM_017000313.2:c.352G>A, XM_017000313.1:c.352G>A, NP_796376.2:p.Asp118Asn, NP_001129976.1:p.Asp118Asn, XP_016855798.1:p.Asp178Asn, XP_016855799.1:p.Asp175Asn, XP_011507494.1:p.Asp121Asn, XP_016855800.1:p.Asp121Asn, XP_016855801.1:p.Asp121Asn, XP_016855802.1:p.Asp118Asn

Select item 144429958118.

rs1444299581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:202596789 (GRCh38)
1:202565917 (GRCh37)
Canonical SPDI:: NC_000001.11:202596788:C:G
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202596789C>G, NC_000001.10:g.202565917C>G, NG_041776.1:g.118635G>C, NM_177402.5:c.1228G>C, NM_177402.4:c.1228G>C, NM_001136504.1:c.1228G>C, XM_017000309.3:c.1408G>C, XM_017000309.2:c.1408G>C, XM_017000309.1:c.1408G>C, XM_017000310.3:c.1399G>C, XM_017000310.2:c.1399G>C, XM_017000310.1:c.1399G>C, XM_011509192.3:c.1237G>C, XM_011509192.2:c.1237G>C, XM_011509192.1:c.1237G>C, XM_017000311.3:c.1237G>C, XM_017000311.2:c.1237G>C, XM_017000311.1:c.1237G>C, XM_017000312.2:c.1237G>C, XM_017000312.1:c.1237G>C, XM_017000313.2:c.1228G>C, XM_017000313.1:c.1228G>C, NP_796376.2:p.Glu410Gln, NP_001129976.1:p.Glu410Gln, XP_016855798.1:p.Glu470Gln, XP_016855799.1:p.Glu467Gln, XP_011507494.1:p.Glu413Gln, XP_016855800.1:p.Glu413Gln, XP_016855801.1:p.Glu413Gln, XP_016855802.1:p.Glu410Gln

Select item 144212382619.

rs1442123826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:202602378 (GRCh38)
1:202571506 (GRCh37)
Canonical SPDI:: NC_000001.11:202602377:C:G
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.202602378C>G, NC_000001.10:g.202571506C>G, NG_041776.1:g.113046G>C, NM_177402.5:c.633G>C, NM_177402.4:c.633G>C, NM_001136504.1:c.633G>C, XM_017000309.3:c.813G>C, XM_017000309.2:c.813G>C, XM_017000309.1:c.813G>C, XM_017000310.3:c.804G>C, XM_017000310.2:c.804G>C, XM_017000310.1:c.804G>C, XM_011509192.3:c.642G>C, XM_011509192.2:c.642G>C, XM_011509192.1:c.642G>C, XM_017000311.3:c.642G>C, XM_017000311.2:c.642G>C, XM_017000311.1:c.642G>C, XM_017000312.2:c.642G>C, XM_017000312.1:c.642G>C, XM_017000313.2:c.633G>C, XM_017000313.1:c.633G>C, NP_796376.2:p.Lys211Asn, NP_001129976.1:p.Lys211Asn, XP_016855798.1:p.Lys271Asn, XP_016855799.1:p.Lys268Asn, XP_011507494.1:p.Lys214Asn, XP_016855800.1:p.Lys214Asn, XP_016855801.1:p.Lys214Asn, XP_016855802.1:p.Lys211Asn

Select item 143482902620.

rs1434829026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:202605937 (GRCh38)
1:202575065 (GRCh37)
Canonical SPDI:: NC_000001.11:202605936:A:T
Gene:: SYT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.202605937A>T, NC_000001.10:g.202575065A>T, NG_041776.1:g.109487T>A, XM_017000309.3:c.7T>A, XM_017000309.2:c.7T>A, XM_017000309.1:c.7T>A, XM_017000310.3:c.7T>A, XM_017000310.2:c.7T>A, XM_017000310.1:c.7T>A, XP_016855798.1:p.Ser3Thr, XP_016855799.1:p.Ser3Thr

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 368

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 368

Page of 19

Page of 19

Display Settings:

Supplemental Content

Find related data

Recent activity