Canonical Allele Identifier: CA346597798

Gene: SRD5A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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