Canonical Allele Identifier: CA340079

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 3345
• ClinVar RCV Id: RCV000003509 ; RCV001269804
• dbSNP Id: rs121434250
• ExAC: 2:31754489 C / T
• gnomAD v2: 2-31754489-C-T
• gnomAD v3: 2-31529419-C-T
• gnomAD v4: 2-31529419-C-T
• MyVariant Identifiers: chr2:g.31754489C>T (hg19) ; chr2:g.31529419C>T (hg38)
• PubMed: PMID:1522235 ; PMID:8706317 ; PMID:9745434

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