Canonical Allele Identifier: CA346598046

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529408-A-C
• MyVariant Identifiers: chr2:g.31754478A>C (hg19) ; chr2:g.31529408A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529408A>C , CM000664.2:g.31529408A>C	GRCh38
NC_000002.11:g.31754478A>C , CM000664.1:g.31754478A>C	GRCh37
NC_000002.10:g.31607982A>C	NCBI36
NG_008365.1:g.56564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.597T>G MANE Select	ENSP00000477587.1:p.Ile199Met
ENST00000622030.1:c.597T>G	ENSP00000477587.1:p.Ile199Met
NM_000348.3:c.597T>G	NP_000339.2:p.Ile199Met
XM_011533069.1:c.375T>G	XP_011531371.1:p.Ile125Met
XM_011533070.1:c.342T>G	XP_011531372.1:p.Ile114Met
XM_011533071.1:c.342T>G	XP_011531373.1:p.Ile114Met
XM_011533072.1:c.342T>G	XP_011531374.1:p.Ile114Met
XM_011533069.2:c.375T>G	XP_011531371.1:p.Ile125Met
XM_011533072.2:c.342T>G	XP_011531374.1:p.Ile114Met
NM_000348.4:c.597T>G MANE Select	NP_000339.2:p.Ile199Met