Canonical Allele Identifier: CA340079
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31529419C>T
GRCh37 chr2:g.31754489C>T
gnomAD v2:
2:31754489 C / T
gnomAD v3:
2:31529419 C / T
gnomAD v4:
chr2-31529419-C-T
Joint Max Group AF 0.00026498 (AFR)
Genomes Max Group AF 0.00024091 (AFR)
Exomes Max Group AF 0.0002599 (SAS)
ClinVar RCV:
RCV000003509
RCV001269804
ClinVar Variation:
3345
dbSNP:
121434250
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529419C>T , CM000664.2:g.31529419C>T GRCh38
NC_000002.11:g.31754489C>T , CM000664.1:g.31754489C>T GRCh37
NC_000002.10:g.31607993C>T NCBI36
NG_008365.1:g.56553G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.586G>A MANE Select ENSP00000477587.1:p.Gly196Ser
ENST00000622030.1:c.586G>A ENSP00000477587.1:p.Gly196Ser
NM_000348.3:c.586G>A NP_000339.2:p.Gly196Ser
XM_011533069.1:c.364G>A XP_011531371.1:p.Gly122Ser
XM_011533070.1:c.331G>A XP_011531372.1:p.Gly111Ser
XM_011533071.1:c.331G>A XP_011531373.1:p.Gly111Ser
XM_011533072.1:c.331G>A XP_011531374.1:p.Gly111Ser
XM_011533069.2:c.364G>A XP_011531371.1:p.Gly122Ser
XM_011533072.2:c.331G>A XP_011531374.1:p.Gly111Ser
NM_000348.4:c.586G>A MANE Select NP_000339.2:p.Gly196Ser
Search 100 bp 5'
Search 100 bp 3'