SNP Links for Protein (Select 619328993) - SNP

Select item 14914284521.

rs1491428452 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 14:64227594 (GRCh38)
14:64694312 (GRCh37)
Canonical SPDI:: NC_000014.9:64227591:GTGT:GT
Gene:: ESR2 (Varview), LOC124903328 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.64227592GT[1], NC_000014.8:g.64694310GT[1], NG_011756.2:g.470694GT[1], NG_011535.1:g.115956AC[1], NM_001291712.2:c.1428_1429del, NM_001291712.1:c.1428_1429del, NR_073496.2:n.2093AC[1], NR_073496.1:n.2030AC[1], NM_001291723.1:c.1428_1429del, NM_001040275.1:c.1428_1429del, NM_001214902.1:c.*295AC[1], XM_047431076.1:c.*295AC[1], NR_073505.1:n.2169AC[1], NM_001040276.1:c.1428_1429del, NP_001278641.1:p.Leu477fs, NP_001278652.1:p.Leu477fs, NP_001035365.1:p.Leu477fs

Select item 14906054152.

rs1490605415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:64257250 (GRCh38)
14:64723968 (GRCh37)
Canonical SPDI:: NC_000014.9:64257249:A:T
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.64257250A>T, NC_000014.8:g.64723968A>T, NG_011535.1:g.86301T>A, NM_001437.3:c.1067T>A, NM_001437.2:c.1067T>A, NM_001291712.2:c.1067T>A, NM_001291712.1:c.1067T>A, NM_001291723.1:c.1067T>A, NM_001040275.1:c.1067T>A, NM_001214902.1:c.1067T>A, NM_001271876.1:c.1067T>A, NR_073497.1:n.1035T>A, XM_047431076.1:c.1067T>A, XM_047431077.1:c.1067T>A, NR_073505.1:n.1810T>A, NM_001040276.1:c.1067T>A, NM_001214903.1:c.1067T>A, NP_001428.1:p.Phe356Tyr, NP_001278641.1:p.Phe356Tyr, NP_001278652.1:p.Phe356Tyr, NP_001035365.1:p.Phe356Tyr, NP_001201831.1:p.Phe356Tyr, NP_001258805.1:p.Phe356Tyr, XP_047287032.1:p.Phe356Tyr, XP_047287033.1:p.Phe356Tyr

Select item 14902748633.

rs1490274863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:64260622 (GRCh38)
14:64727340 (GRCh37)
Canonical SPDI:: NC_000014.9:64260621:A:C
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.64260622A>C, NC_000014.8:g.64727340A>C, NG_011535.1:g.82929T>G, NM_001437.3:c.779T>G, NM_001437.2:c.779T>G, NM_001291712.2:c.779T>G, NM_001291712.1:c.779T>G, NR_073496.2:n.1585T>G, NR_073496.1:n.1522T>G, NM_001291723.1:c.779T>G, NM_001040275.1:c.779T>G, NM_001214902.1:c.779T>G, NM_001271876.1:c.779T>G, NR_073497.1:n.696T>G, NM_001271877.1:c.779T>G, XM_047431076.1:c.779T>G, XM_047431077.1:c.779T>G, NR_073505.1:n.1522T>G, NM_001040276.1:c.779T>G, XM_047431078.1:c.779T>G, NM_001214903.1:c.779T>G, NP_001428.1:p.Leu260Arg, NP_001278641.1:p.Leu260Arg, NP_001278652.1:p.Leu260Arg, NP_001035365.1:p.Leu260Arg, NP_001201831.1:p.Leu260Arg, NP_001258805.1:p.Leu260Arg, NP_001258806.1:p.Leu260Arg, XP_047287032.1:p.Leu260Arg, XP_047287033.1:p.Leu260Arg, XP_047287034.1:p.Leu260Arg

Select item 14899207934.

rs1489920793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:64268854 (GRCh38)
14:64735572 (GRCh37)
Canonical SPDI:: NC_000014.9:64268853:C:G,NC_000014.9:64268853:C:T
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.64268854C>G, NC_000014.9:g.64268854C>T, NC_000014.8:g.64735572C>G, NC_000014.8:g.64735572C>T, NG_011535.1:g.74697G>C, NG_011535.1:g.74697G>A, NM_001437.3:c.593G>C, NM_001437.3:c.593G>A, NM_001437.2:c.593G>C, NM_001437.2:c.593G>A, NM_001291712.2:c.593G>C, NM_001291712.2:c.593G>A, NM_001291712.1:c.593G>C, NM_001291712.1:c.593G>A, NR_073496.2:n.1399G>C, NR_073496.2:n.1399G>A, NR_073496.1:n.1336G>C, NR_073496.1:n.1336G>A, NM_001291723.1:c.593G>C, NM_001291723.1:c.593G>A, NM_001040275.1:c.593G>C, NM_001040275.1:c.593G>A, NM_001214902.1:c.593G>C, NM_001214902.1:c.593G>A, NM_001271876.1:c.593G>C, NM_001271876.1:c.593G>A, NR_073497.1:n.510G>C, NR_073497.1:n.510G>A, NM_001271877.1:c.593G>C, NM_001271877.1:c.593G>A, XM_047431076.1:c.593G>C, XM_047431076.1:c.593G>A, XM_047431077.1:c.593G>C, XM_047431077.1:c.593G>A, NR_073505.1:n.1336G>C, NR_073505.1:n.1336G>A, NM_001040276.1:c.593G>C, NM_001040276.1:c.593G>A, XM_047431078.1:c.593G>C, XM_047431078.1:c.593G>A, NM_001214903.1:c.593G>C, NM_001214903.1:c.593G>A, NP_001428.1:p.Arg198Pro, NP_001428.1:p.Arg198His, NP_001278641.1:p.Arg198Pro, NP_001278641.1:p.Arg198His, NP_001278652.1:p.Arg198Pro, NP_001278652.1:p.Arg198His, NP_001035365.1:p.Arg198Pro, NP_001035365.1:p.Arg198His, NP_001201831.1:p.Arg198Pro, NP_001201831.1:p.Arg198His, NP_001258805.1:p.Arg198Pro, NP_001258805.1:p.Arg198His, NP_001258806.1:p.Arg198Pro, NP_001258806.1:p.Arg198His, XP_047287032.1:p.Arg198Pro, XP_047287032.1:p.Arg198His, XP_047287033.1:p.Arg198Pro, XP_047287033.1:p.Arg198His, XP_047287034.1:p.Arg198Pro, XP_047287034.1:p.Arg198His

Select item 14895441675.

rs1489544167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:64227561 (GRCh38)
14:64694279 (GRCh37)
Canonical SPDI:: NC_000014.9:64227560:A:G
Gene:: ESR2 (Varview), LOC124903328 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.64227561A>G, NC_000014.8:g.64694279A>G, NG_011756.2:g.470663A>G, NG_011535.1:g.115990T>C, NM_001291712.2:c.1460T>C, NM_001291712.1:c.1460T>C, NR_073496.2:n.2127T>C, NR_073496.1:n.2064T>C, NM_001291723.1:c.1460T>C, NM_001040275.1:c.1460T>C, NM_001214902.1:c.*329T>C, XM_047431076.1:c.*329T>C, NR_073505.1:n.2203T>C, NM_001040276.1:c.1460T>C, XR_007064205.1:n.63A>G, NP_001278641.1:p.Leu487Pro, NP_001278652.1:p.Leu487Pro, NP_001035365.1:p.Leu487Pro

Select item 14880317746.

rs1488031774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:64260532 (GRCh38)
14:64727250 (GRCh37)
Canonical SPDI:: NC_000014.9:64260531:G:A
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000014.9:g.64260532G>A, NC_000014.8:g.64727250G>A, NG_011535.1:g.83019C>T, NM_001437.3:c.869C>T, NM_001437.2:c.869C>T, NM_001291712.2:c.869C>T, NM_001291712.1:c.869C>T, NR_073496.2:n.1675C>T, NR_073496.1:n.1612C>T, NM_001291723.1:c.869C>T, NM_001040275.1:c.869C>T, NM_001214902.1:c.869C>T, NM_001271876.1:c.869C>T, NR_073497.1:n.786C>T, NM_001271877.1:c.869C>T, XM_047431076.1:c.869C>T, XM_047431077.1:c.869C>T, NR_073505.1:n.1612C>T, NM_001040276.1:c.869C>T, XM_047431078.1:c.869C>T, NM_001214903.1:c.869C>T, NP_001428.1:p.Thr290Ile, NP_001278641.1:p.Thr290Ile, NP_001278652.1:p.Thr290Ile, NP_001035365.1:p.Thr290Ile, NP_001201831.1:p.Thr290Ile, NP_001258805.1:p.Thr290Ile, NP_001258806.1:p.Thr290Ile, XP_047287032.1:p.Thr290Ile, XP_047287033.1:p.Thr290Ile, XP_047287034.1:p.Thr290Ile

Select item 14848284887.

rs1484828488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:64280059 (GRCh38)
14:64746777 (GRCh37)
Canonical SPDI:: NC_000014.9:64280058:T:C
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.64280059T>C, NC_000014.8:g.64746777T>C, NG_011535.1:g.63492A>G, NM_001437.3:c.457A>G, NM_001437.2:c.457A>G, NM_001291712.2:c.457A>G, NM_001291712.1:c.457A>G, NR_073496.2:n.1263A>G, NR_073496.1:n.1200A>G, NM_001291723.1:c.457A>G, NM_001040275.1:c.457A>G, NM_001214902.1:c.457A>G, NM_001271876.1:c.457A>G, NM_001271877.1:c.457A>G, XM_047431076.1:c.457A>G, XM_047431077.1:c.457A>G, NR_073505.1:n.1200A>G, NM_001040276.1:c.457A>G, XM_047431078.1:c.457A>G, NM_001214903.1:c.457A>G, NP_001428.1:p.Ser153Gly, NP_001278641.1:p.Ser153Gly, NP_001278652.1:p.Ser153Gly, NP_001035365.1:p.Ser153Gly, NP_001201831.1:p.Ser153Gly, NP_001258805.1:p.Ser153Gly, NP_001258806.1:p.Ser153Gly, XP_047287032.1:p.Ser153Gly, XP_047287033.1:p.Ser153Gly, XP_047287034.1:p.Ser153Gly

Select item 14841728728.

rs1484172872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:64235132 (GRCh38)
14:64701850 (GRCh37)
Canonical SPDI:: NC_000014.9:64235131:G:A
Gene:: ESR2 (Varview), LOC124903328 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.64235132G>A, NC_000014.8:g.64701850G>A, NG_011535.1:g.108419C>T, NM_001437.3:c.1244C>T, NM_001437.2:c.1244C>T, NM_001291712.2:c.1244C>T, NM_001291712.1:c.1244C>T, NR_073496.2:n.1911C>T, NR_073496.1:n.1848C>T, NM_001291723.1:c.1244C>T, NM_001040275.1:c.1244C>T, NM_001214902.1:c.1244C>T, NM_001271876.1:c.1244C>T, NR_073497.1:n.1212C>T, NM_001271877.1:c.971C>T, XM_047431076.1:c.1244C>T, XM_047431077.1:c.1244C>T, NR_073505.1:n.1987C>T, NM_001040276.1:c.1244C>T, NM_001214903.1:c.1244C>T, XR_007064205.1:n.360G>A, NP_001428.1:p.Thr415Ile, NP_001278641.1:p.Thr415Ile, NP_001278652.1:p.Thr415Ile, NP_001035365.1:p.Thr415Ile, NP_001201831.1:p.Thr415Ile, NP_001258805.1:p.Thr415Ile, NP_001258806.1:p.Thr324Ile, XP_047287032.1:p.Thr415Ile, XP_047287033.1:p.Thr415Ile

Select item 14812425779.

rs1481242577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:64260591 (GRCh38)
14:64727309 (GRCh37)
Canonical SPDI:: NC_000014.9:64260590:G:A
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.64260591G>A, NC_000014.8:g.64727309G>A, NG_011535.1:g.82960C>T, NM_001437.3:c.810C>T, NM_001437.2:c.810C>T, NM_001291712.2:c.810C>T, NM_001291712.1:c.810C>T, NR_073496.2:n.1616C>T, NR_073496.1:n.1553C>T, NM_001291723.1:c.810C>T, NM_001040275.1:c.810C>T, NM_001214902.1:c.810C>T, NM_001271876.1:c.810C>T, NR_073497.1:n.727C>T, NM_001271877.1:c.810C>T, XM_047431076.1:c.810C>T, XM_047431077.1:c.810C>T, NR_073505.1:n.1553C>T, NM_001040276.1:c.810C>T, XM_047431078.1:c.810C>T, NM_001214903.1:c.810C>T

Select item 148031691510.

rs1480316915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:64260585 (GRCh38)
14:64727303 (GRCh37)
Canonical SPDI:: NC_000014.9:64260584:G:A
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.64260585G>A, NC_000014.8:g.64727303G>A, NG_011535.1:g.82966C>T, NM_001437.3:c.816C>T, NM_001437.2:c.816C>T, NM_001291712.2:c.816C>T, NM_001291712.1:c.816C>T, NR_073496.2:n.1622C>T, NR_073496.1:n.1559C>T, NM_001291723.1:c.816C>T, NM_001040275.1:c.816C>T, NM_001214902.1:c.816C>T, NM_001271876.1:c.816C>T, NR_073497.1:n.733C>T, NM_001271877.1:c.816C>T, XM_047431076.1:c.816C>T, XM_047431077.1:c.816C>T, NR_073505.1:n.1559C>T, NM_001040276.1:c.816C>T, XM_047431078.1:c.816C>T, NM_001214903.1:c.816C>T

Select item 147894584011.

rs1478945840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:64260462 (GRCh38)
14:64727180 (GRCh37)
Canonical SPDI:: NC_000014.9:64260461:G:A
Gene:: ESR2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.64260462G>A, NC_000014.8:g.64727180G>A, NG_011535.1:g.83089C>T, NM_001437.3:c.939C>T, NM_001437.2:c.939C>T, NM_001291712.2:c.939C>T, NM_001291712.1:c.939C>T, NR_073496.2:n.1745C>T, NR_073496.1:n.1682C>T, NM_001291723.1:c.939C>T, NM_001040275.1:c.939C>T, NM_001214902.1:c.939C>T, NM_001271876.1:c.939C>T, NR_073497.1:n.856C>T, NM_001271877.1:c.939C>T, XM_047431076.1:c.939C>T, XM_047431077.1:c.939C>T, NR_073505.1:n.1682C>T, NM_001040276.1:c.939C>T, XM_047431078.1:c.939C>T, NM_001214903.1:c.939C>T

Select item 147671914412.

rs1476719144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:64260748 (GRCh38)
14:64727466 (GRCh37)
Canonical SPDI:: NC_000014.9:64260747:C:G
Gene:: ESR2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.64260748C>G, NC_000014.8:g.64727466C>G, NG_011535.1:g.82803G>C, NM_001437.3:c.653G>C, NM_001437.2:c.653G>C, NM_001291712.2:c.653G>C, NM_001291712.1:c.653G>C, NR_073496.2:n.1459G>C, NR_073496.1:n.1396G>C, NM_001291723.1:c.653G>C, NM_001040275.1:c.653G>C, NM_001214902.1:c.653G>C, NM_001271876.1:c.653G>C, NR_073497.1:n.570G>C, NM_001271877.1:c.653G>C, XM_047431076.1:c.653G>C, XM_047431077.1:c.653G>C, NR_073505.1:n.1396G>C, NM_001040276.1:c.653G>C, XM_047431078.1:c.653G>C, NM_001214903.1:c.653G>C, NP_001428.1:p.Gly218Ala, NP_001278641.1:p.Gly218Ala, NP_001278652.1:p.Gly218Ala, NP_001035365.1:p.Gly218Ala, NP_001201831.1:p.Gly218Ala, NP_001258805.1:p.Gly218Ala, NP_001258806.1:p.Gly218Ala, XP_047287032.1:p.Gly218Ala, XP_047287033.1:p.Gly218Ala, XP_047287034.1:p.Gly218Ala

Select item 147372289913.

rs1473722899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:64282771 (GRCh38)
14:64749489 (GRCh37)
Canonical SPDI:: NC_000014.9:64282770:T:C
Gene:: ESR2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.64282771T>C, NC_000014.8:g.64749489T>C, NG_011535.1:g.60780A>G, NM_001437.3:c.215A>G, NM_001437.2:c.215A>G, NM_001291712.2:c.215A>G, NM_001291712.1:c.215A>G, NR_073496.2:n.1021A>G, NR_073496.1:n.958A>G, NM_001291723.1:c.215A>G, NM_001040275.1:c.215A>G, NM_001214902.1:c.215A>G, NM_001271876.1:c.215A>G, NR_073497.1:n.305A>G, NM_001271877.1:c.215A>G, XM_047431076.1:c.215A>G, XM_047431077.1:c.215A>G, NR_073505.1:n.958A>G, NM_001040276.1:c.215A>G, XM_047431078.1:c.215A>G, NM_001214903.1:c.215A>G, NP_001428.1:p.Gln72Arg, NP_001278641.1:p.Gln72Arg, NP_001278652.1:p.Gln72Arg, NP_001035365.1:p.Gln72Arg, NP_001201831.1:p.Gln72Arg, NP_001258805.1:p.Gln72Arg, NP_001258806.1:p.Gln72Arg, XP_047287032.1:p.Gln72Arg, XP_047287033.1:p.Gln72Arg, XP_047287034.1:p.Gln72Arg

Select item 147321150814.

rs1473211508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:64282650 (GRCh38)
14:64749368 (GRCh37)
Canonical SPDI:: NC_000014.9:64282649:C:T
Gene:: ESR2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.64282650C>T, NC_000014.8:g.64749368C>T, NG_011535.1:g.60901G>A, NM_001437.3:c.336G>A, NM_001437.2:c.336G>A, NM_001291712.2:c.336G>A, NM_001291712.1:c.336G>A, NR_073496.2:n.1142G>A, NR_073496.1:n.1079G>A, NM_001291723.1:c.336G>A, NM_001040275.1:c.336G>A, NM_001214902.1:c.336G>A, NM_001271876.1:c.336G>A, NR_073497.1:n.426G>A, NM_001271877.1:c.336G>A, XM_047431076.1:c.336G>A, XM_047431077.1:c.336G>A, NR_073505.1:n.1079G>A, NM_001040276.1:c.336G>A, XM_047431078.1:c.336G>A, NM_001214903.1:c.336G>A

Select item 147274341815.

rs1472743418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:64280050 (GRCh38)
14:64746768 (GRCh37)
Canonical SPDI:: NC_000014.9:64280049:C:A,NC_000014.9:64280049:C:T
Gene:: ESR2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.64280050C>A, NC_000014.9:g.64280050C>T, NC_000014.8:g.64746768C>A, NC_000014.8:g.64746768C>T, NG_011535.1:g.63501G>T, NG_011535.1:g.63501G>A, NM_001437.3:c.466G>T, NM_001437.3:c.466G>A, NM_001437.2:c.466G>T, NM_001437.2:c.466G>A, NM_001291712.2:c.466G>T, NM_001291712.2:c.466G>A, NM_001291712.1:c.466G>T, NM_001291712.1:c.466G>A, NR_073496.2:n.1272G>T, NR_073496.2:n.1272G>A, NR_073496.1:n.1209G>T, NR_073496.1:n.1209G>A, NM_001291723.1:c.466G>T, NM_001291723.1:c.466G>A, NM_001040275.1:c.466G>T, NM_001040275.1:c.466G>A, NM_001214902.1:c.466G>T, NM_001214902.1:c.466G>A, NM_001271876.1:c.466G>T, NM_001271876.1:c.466G>A, NM_001271877.1:c.466G>T, NM_001271877.1:c.466G>A, XM_047431076.1:c.466G>T, XM_047431076.1:c.466G>A, XM_047431077.1:c.466G>T, XM_047431077.1:c.466G>A, NR_073505.1:n.1209G>T, NR_073505.1:n.1209G>A, NM_001040276.1:c.466G>T, NM_001040276.1:c.466G>A, XM_047431078.1:c.466G>T, XM_047431078.1:c.466G>A, NM_001214903.1:c.466G>T, NM_001214903.1:c.466G>A, NP_001428.1:p.Ala156Ser, NP_001428.1:p.Ala156Thr, NP_001278641.1:p.Ala156Ser, NP_001278641.1:p.Ala156Thr, NP_001278652.1:p.Ala156Ser, NP_001278652.1:p.Ala156Thr, NP_001035365.1:p.Ala156Ser, NP_001035365.1:p.Ala156Thr, NP_001201831.1:p.Ala156Ser, NP_001201831.1:p.Ala156Thr, NP_001258805.1:p.Ala156Ser, NP_001258805.1:p.Ala156Thr, NP_001258806.1:p.Ala156Ser, NP_001258806.1:p.Ala156Thr, XP_047287032.1:p.Ala156Ser, XP_047287032.1:p.Ala156Thr, XP_047287033.1:p.Ala156Ser, XP_047287033.1:p.Ala156Thr, XP_047287034.1:p.Ala156Ser, XP_047287034.1:p.Ala156Thr

Select item 146767229816.

rs1467672298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:64257267 (GRCh38)
14:64723985 (GRCh37)
Canonical SPDI:: NC_000014.9:64257266:G:T
Gene:: ESR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_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_000014.9:g.64257267G>T, NC_000014.8:g.64723985G>T, NG_011535.1:g.86284C>A, NM_001437.3:c.1050C>A, NM_001437.2:c.1050C>A, NM_001291712.2:c.1050C>A, NM_001291712.1:c.1050C>A, NM_001291723.1:c.1050C>A, NM_001040275.1:c.1050C>A, NM_001214902.1:c.1050C>A, NM_001271876.1:c.1050C>A, NR_073497.1:n.1018C>A, XM_047431076.1:c.1050C>A, XM_047431077.1:c.1050C>A, NR_073505.1:n.1793C>A, NM_001040276.1:c.1050C>A, NM_001214903.1:c.1050C>A, NP_001428.1:p.His350Gln, NP_001278641.1:p.His350Gln, NP_001278652.1:p.His350Gln, NP_001035365.1:p.His350Gln, NP_001201831.1:p.His350Gln, NP_001258805.1:p.His350Gln, XP_047287032.1:p.His350Gln, XP_047287033.1:p.His350Gln

Select item 146672792417.

rs1466727924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:64282647 (GRCh38)
14:64749365 (GRCh37)
Canonical SPDI:: NC_000014.9:64282646:T:C
Gene:: ESR2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.64282647T>C, NC_000014.8:g.64749365T>C, NG_011535.1:g.60904A>G, NM_001437.3:c.339A>G, NM_001437.2:c.339A>G, NM_001291712.2:c.339A>G, NM_001291712.1:c.339A>G, NR_073496.2:n.1145A>G, NR_073496.1:n.1082A>G, NM_001291723.1:c.339A>G, NM_001040275.1:c.339A>G, NM_001214902.1:c.339A>G, NM_001271876.1:c.339A>G, NR_073497.1:n.429A>G, NM_001271877.1:c.339A>G, XM_047431076.1:c.339A>G, XM_047431077.1:c.339A>G, NR_073505.1:n.1082A>G, NM_001040276.1:c.339A>G, XM_047431078.1:c.339A>G, NM_001214903.1:c.339A>G

Select item 146492317018.

rs1464923170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:64282782 (GRCh38)
14:64749500 (GRCh37)
Canonical SPDI:: NC_000014.9:64282781:C:T
Gene:: ESR2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.64282782C>T, NC_000014.8:g.64749500C>T, NG_011535.1:g.60769G>A, NM_001437.3:c.204G>A, NM_001437.2:c.204G>A, NM_001291712.2:c.204G>A, NM_001291712.1:c.204G>A, NR_073496.2:n.1010G>A, NR_073496.1:n.947G>A, NM_001291723.1:c.204G>A, NM_001040275.1:c.204G>A, NM_001214902.1:c.204G>A, NM_001271876.1:c.204G>A, NR_073497.1:n.294G>A, NM_001271877.1:c.204G>A, XM_047431076.1:c.204G>A, XM_047431077.1:c.204G>A, NR_073505.1:n.947G>A, NM_001040276.1:c.204G>A, XM_047431078.1:c.204G>A, NM_001214903.1:c.204G>A

Select item 146389369819.

rs1463893698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:64282772 (GRCh38)
14:64749490 (GRCh37)
Canonical SPDI:: NC_000014.9:64282771:G:A
Gene:: ESR2 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.64282772G>A, NC_000014.8:g.64749490G>A, NG_011535.1:g.60779C>T, NM_001437.3:c.214C>T, NM_001437.2:c.214C>T, NM_001291712.2:c.214C>T, NM_001291712.1:c.214C>T, NR_073496.2:n.1020C>T, NR_073496.1:n.957C>T, NM_001291723.1:c.214C>T, NM_001040275.1:c.214C>T, NM_001214902.1:c.214C>T, NM_001271876.1:c.214C>T, NR_073497.1:n.304C>T, NM_001271877.1:c.214C>T, XM_047431076.1:c.214C>T, XM_047431077.1:c.214C>T, NR_073505.1:n.957C>T, NM_001040276.1:c.214C>T, XM_047431078.1:c.214C>T, NM_001214903.1:c.214C>T, NP_001428.1:p.Gln72Ter, NP_001278641.1:p.Gln72Ter, NP_001278652.1:p.Gln72Ter, NP_001035365.1:p.Gln72Ter, NP_001201831.1:p.Gln72Ter, NP_001258805.1:p.Gln72Ter, NP_001258806.1:p.Gln72Ter, XP_047287032.1:p.Gln72Ter, XP_047287033.1:p.Gln72Ter, XP_047287034.1:p.Gln72Ter

Select item 146081436320.

rs1460814363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:64282735 (GRCh38)
14:64749453 (GRCh37)
Canonical SPDI:: NC_000014.9:64282734:C:A
Gene:: ESR2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.64282735C>A, NC_000014.8:g.64749453C>A, NG_011535.1:g.60816G>T, NM_001437.3:c.251G>T, NM_001437.2:c.251G>T, NM_001291712.2:c.251G>T, NM_001291712.1:c.251G>T, NR_073496.2:n.1057G>T, NR_073496.1:n.994G>T, NM_001291723.1:c.251G>T, NM_001040275.1:c.251G>T, NM_001214902.1:c.251G>T, NM_001271876.1:c.251G>T, NR_073497.1:n.341G>T, NM_001271877.1:c.251G>T, XM_047431076.1:c.251G>T, XM_047431077.1:c.251G>T, NR_073505.1:n.994G>T, NM_001040276.1:c.251G>T, XM_047431078.1:c.251G>T, NM_001214903.1:c.251G>T, NP_001428.1:p.Gly84Val, NP_001278641.1:p.Gly84Val, NP_001278652.1:p.Gly84Val, NP_001035365.1:p.Gly84Val, NP_001201831.1:p.Gly84Val, NP_001258805.1:p.Gly84Val, NP_001258806.1:p.Gly84Val, XP_047287032.1:p.Gly84Val, XP_047287033.1:p.Gly84Val, XP_047287034.1:p.Gly84Val

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