Canonical Allele Identifier: CA1599959

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 459636
• ClinVar RCV Id: RCV000537388 ; RCV001519907
• dbSNP Id: rs28383048
• ExAC: 2:31758781 G / C
• gnomAD v2: 2-31758781-G-C
• gnomAD v3: 2-31533711-G-C
• gnomAD v4: 2-31533711-G-C
• MyVariant Identifiers: chr2:g.31758781G>C (hg19) ; chr2:g.31533711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533711G>C , CM000664.2:g.31533711G>C	GRCh38
NC_000002.11:g.31758781G>C , CM000664.1:g.31758781G>C	GRCh37
NC_000002.10:g.31612285G>C	NCBI36
NG_008365.1:g.52261C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.337C>G MANE Select	ENSP00000477587.1:p.Leu113Val
ENST00000622030.1:c.337C>G	ENSP00000477587.1:p.Leu113Val
NM_000348.3:c.337C>G	NP_000339.2:p.Leu113Val
XM_011533068.1:c.337C>G	XP_011531370.1:p.Leu113Val
XM_011533069.1:c.115C>G	XP_011531371.1:p.Leu39Val
XM_011533070.1:c.82C>G	XP_011531372.1:p.Leu28Val
XM_011533071.1:c.82C>G	XP_011531373.1:p.Leu28Val
XM_011533072.1:c.82C>G	XP_011531374.1:p.Leu28Val
XM_011533069.2:c.115C>G	XP_011531371.1:p.Leu39Val
XM_011533072.2:c.82C>G	XP_011531374.1:p.Leu28Val
NM_000348.4:c.337C>G MANE Select	NP_000339.2:p.Leu113Val