Canonical Allele Identifier: CA1599957

Gene: SRD5A2

Linked Data

• dbSNP Id: rs762022166
• ExAC: 2:31758768 G / A
• gnomAD v2: 2-31758768-G-A
• gnomAD v3: 2-31533698-G-A
• gnomAD v4: 2-31533698-G-A
• MyVariant Identifiers: chr2:g.31758768G>A (hg19) ; chr2:g.31533698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533698G>A , CM000664.2:g.31533698G>A	GRCh38
NC_000002.11:g.31758768G>A , CM000664.1:g.31758768G>A	GRCh37
NC_000002.10:g.31612272G>A	NCBI36
NG_008365.1:g.52274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.350C>T MANE Select	ENSP00000477587.1:p.Ala117Val
ENST00000622030.1:c.350C>T	ENSP00000477587.1:p.Ala117Val
NM_000348.3:c.350C>T	NP_000339.2:p.Ala117Val
XM_011533068.1:c.350C>T	XP_011531370.1:p.Ala117Val
XM_011533069.1:c.128C>T	XP_011531371.1:p.Ala43Val
XM_011533070.1:c.95C>T	XP_011531372.1:p.Ala32Val
XM_011533071.1:c.95C>T	XP_011531373.1:p.Ala32Val
XM_011533072.1:c.95C>T	XP_011531374.1:p.Ala32Val
XM_011533069.2:c.128C>T	XP_011531371.1:p.Ala43Val
XM_011533072.2:c.95C>T	XP_011531374.1:p.Ala32Val
NM_000348.4:c.350C>T MANE Select	NP_000339.2:p.Ala117Val