Canonical Allele Identifier: CA346598697

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533747-G-C
• MyVariant Identifiers: chr2:g.31758817G>C (hg19) ; chr2:g.31533747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533747G>C , CM000664.2:g.31533747G>C	GRCh38
NC_000002.11:g.31758817G>C , CM000664.1:g.31758817G>C	GRCh37
NC_000002.10:g.31612321G>C	NCBI36
NG_008365.1:g.52225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.301C>G MANE Select	ENSP00000477587.1:p.Leu101Val
ENST00000622030.1:c.301C>G	ENSP00000477587.1:p.Leu101Val
NM_000348.3:c.301C>G	NP_000339.2:p.Leu101Val
XM_011533068.1:c.301C>G	XP_011531370.1:p.Leu101Val
XM_011533069.1:c.79C>G	XP_011531371.1:p.Leu27Val
XM_011533070.1:c.46C>G	XP_011531372.1:p.Leu16Val
XM_011533071.1:c.46C>G	XP_011531373.1:p.Leu16Val
XM_011533072.1:c.46C>G	XP_011531374.1:p.Leu16Val
XM_011533069.2:c.79C>G	XP_011531371.1:p.Leu27Val
XM_011533072.2:c.46C>G	XP_011531374.1:p.Leu16Val
NM_000348.4:c.301C>G MANE Select	NP_000339.2:p.Leu101Val