Canonical Allele Identifier: CA346598565

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31758748C>G (hg19) ; chr2:g.31533678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533678C>G , CM000664.2:g.31533678C>G	GRCh38
NC_000002.11:g.31758748C>G , CM000664.1:g.31758748C>G	GRCh37
NC_000002.10:g.31612252C>G	NCBI36
NG_008365.1:g.52294G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.370G>C MANE Select	ENSP00000477587.1:p.Val124Leu
ENST00000622030.1:c.370G>C	ENSP00000477587.1:p.Val124Leu
NM_000348.3:c.370G>C	NP_000339.2:p.Val124Leu
XM_011533068.1:c.370G>C	XP_011531370.1:p.Val124Leu
XM_011533069.1:c.148G>C	XP_011531371.1:p.Val50Leu
XM_011533070.1:c.115G>C	XP_011531372.1:p.Val39Leu
XM_011533071.1:c.115G>C	XP_011531373.1:p.Val39Leu
XM_011533072.1:c.115G>C	XP_011531374.1:p.Val39Leu
XM_011533069.2:c.148G>C	XP_011531371.1:p.Val50Leu
XM_011533072.2:c.115G>C	XP_011531374.1:p.Val39Leu
NM_000348.4:c.370G>C MANE Select	NP_000339.2:p.Val124Leu