Canonical Allele Identifier: CA45136298

Gene: SRD5A2

Linked Data

• dbSNP Id: rs559957404
• gnomAD v3: 2-31529213-A-G
• gnomAD v4: 2-31529213-A-G
• MyVariant Identifiers: chr2:g.31754283A>G (hg19) ; chr2:g.31529213A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529213A>G , CM000664.2:g.31529213A>G	GRCh38
NC_000002.11:g.31754283A>G , CM000664.1:g.31754283A>G	GRCh37
NC_000002.10:g.31607787A>G	NCBI36
NG_008365.1:g.56759T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.698+94T>C MANE Select	ENSP00000477587.1:n.698+94T>C
ENST00000622030.1:c.698+94T>C	ENSP00000477587.1:n.698+94T>C
NM_000348.3:c.698+94T>C	NP_000339.2:n.698+94T>C
XM_011533069.1:c.476+94T>C	XP_011531371.1:n.476+94T>C
XM_011533070.1:c.443+94T>C	XP_011531372.1:n.443+94T>C
XM_011533071.1:c.443+94T>C	XP_011531373.1:n.443+94T>C
XM_011533072.1:c.443+94T>C	XP_011531374.1:n.443+94T>C
XM_011533069.2:c.476+94T>C	XP_011531371.1:n.476+94T>C
XM_011533072.2:c.443+94T>C	XP_011531374.1:n.443+94T>C
NM_000348.4:c.698+94T>C MANE Select	NP_000339.2:n.698+94T>C