Canonical Allele Identifier: CA1599961

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 1364583
• ClinVar RCV Id: RCV001937485
• dbSNP Id: rs200206626
• ExAC: 2:31758787 G / T
• gnomAD v2: 2-31758787-G-T
• gnomAD v3: 2-31533717-G-T
• gnomAD v4: 2-31533717-G-T
• MyVariant Identifiers: chr2:g.31758787G>T (hg19) ; chr2:g.31533717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533717G>T , CM000664.2:g.31533717G>T	GRCh38
NC_000002.11:g.31758787G>T , CM000664.1:g.31758787G>T	GRCh37
NC_000002.10:g.31612291G>T	NCBI36
NG_008365.1:g.52255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.331C>A MANE Select	ENSP00000477587.1:p.Leu111Ile
ENST00000622030.1:c.331C>A	ENSP00000477587.1:p.Leu111Ile
NM_000348.3:c.331C>A	NP_000339.2:p.Leu111Ile
XM_011533068.1:c.331C>A	XP_011531370.1:p.Leu111Ile
XM_011533069.1:c.109C>A	XP_011531371.1:p.Leu37Ile
XM_011533070.1:c.76C>A	XP_011531372.1:p.Leu26Ile
XM_011533071.1:c.76C>A	XP_011531373.1:p.Leu26Ile
XM_011533072.1:c.76C>A	XP_011531374.1:p.Leu26Ile
XM_011533069.2:c.109C>A	XP_011531371.1:p.Leu37Ile
XM_011533072.2:c.76C>A	XP_011531374.1:p.Leu26Ile
NM_000348.4:c.331C>A MANE Select	NP_000339.2:p.Leu111Ile