Canonical Allele Identifier: CA346597799

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31751319T>A (hg19) ; chr2:g.31526249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526249T>A , CM000664.2:g.31526249T>A	GRCh38
NC_000002.11:g.31751319T>A , CM000664.1:g.31751319T>A	GRCh37
NC_000002.10:g.31604823T>A	NCBI36
NG_008365.1:g.59723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.712A>T MANE Select	ENSP00000477587.1:p.Met238Leu
ENST00000622030.1:c.712A>T	ENSP00000477587.1:p.Met238Leu
NM_000348.3:c.712A>T	NP_000339.2:p.Met238Leu
XM_011533069.1:c.490A>T	XP_011531371.1:p.Met164Leu
XM_011533070.1:c.457A>T	XP_011531372.1:p.Met153Leu
XM_011533071.1:c.457A>T	XP_011531373.1:p.Met153Leu
XM_011533072.1:c.457A>T	XP_011531374.1:p.Met153Leu
XM_011533069.2:c.490A>T	XP_011531371.1:p.Met164Leu
XM_011533072.2:c.457A>T	XP_011531374.1:p.Met153Leu
NM_000348.4:c.712A>T MANE Select	NP_000339.2:p.Met238Leu