Canonical Allele Identifier: CA346598807

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1374773126
• gnomAD v2: 2-31805714-A-G
• gnomAD v4: 2-31580644-A-G
• MyVariant Identifiers: chr2:g.31805714A>G (hg19) ; chr2:g.31580644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580644A>G , CM000664.2:g.31580644A>G	GRCh38
NC_000002.11:g.31805714A>G , CM000664.1:g.31805714A>G	GRCh37
NC_000002.10:g.31659218A>G	NCBI36
NG_008365.1:g.5328T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.257T>C MANE Select	ENSP00000477587.1:p.Leu86Pro
ENST00000622030.1:c.257T>C	ENSP00000477587.1:p.Leu86Pro
NM_000348.3:c.257T>C	NP_000339.2:p.Leu86Pro
XM_011533068.1:c.257T>C	XP_011531370.1:p.Leu86Pro
XM_011533070.1:c.27-46878T>C	XP_011531372.1:n.27-46878T>C
XM_011533071.1:c.27-46878T>C	XP_011531373.1:n.27-46878T>C
XM_011533072.1:c.27-46878T>C	XP_011531374.1:n.27-46878T>C
XM_011533072.2:c.27-46878T>C	XP_011531374.1:n.27-46878T>C
NM_000348.4:c.257T>C MANE Select	NP_000339.2:p.Leu86Pro