Canonical Allele Identifier: CA346597808

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31751322T>G (hg19) ; chr2:g.31526252T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526252T>G , CM000664.2:g.31526252T>G	GRCh38
NC_000002.11:g.31751322T>G , CM000664.1:g.31751322T>G	GRCh37
NC_000002.10:g.31604826T>G	NCBI36
NG_008365.1:g.59720A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.709A>C MANE Select	ENSP00000477587.1:p.Lys237Gln
ENST00000622030.1:c.709A>C	ENSP00000477587.1:p.Lys237Gln
NM_000348.3:c.709A>C	NP_000339.2:p.Lys237Gln
XM_011533069.1:c.487A>C	XP_011531371.1:p.Lys163Gln
XM_011533070.1:c.454A>C	XP_011531372.1:p.Lys152Gln
XM_011533071.1:c.454A>C	XP_011531373.1:p.Lys152Gln
XM_011533072.1:c.454A>C	XP_011531374.1:p.Lys152Gln
XM_011533069.2:c.487A>C	XP_011531371.1:p.Lys163Gln
XM_011533072.2:c.454A>C	XP_011531374.1:p.Lys152Gln
NM_000348.4:c.709A>C MANE Select	NP_000339.2:p.Lys237Gln