Canonical Allele Identifier: CA346597868

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31754389A>C (hg19) ; chr2:g.31529319A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529319A>C , CM000664.2:g.31529319A>C	GRCh38
NC_000002.11:g.31754389A>C , CM000664.1:g.31754389A>C	GRCh37
NC_000002.10:g.31607893A>C	NCBI36
NG_008365.1:g.56653T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.686T>G MANE Select	ENSP00000477587.1:p.Phe229Cys
ENST00000622030.1:c.686T>G	ENSP00000477587.1:p.Phe229Cys
NM_000348.3:c.686T>G	NP_000339.2:p.Phe229Cys
XM_011533069.1:c.464T>G	XP_011531371.1:p.Phe155Cys
XM_011533070.1:c.431T>G	XP_011531372.1:p.Phe144Cys
XM_011533071.1:c.431T>G	XP_011531373.1:p.Phe144Cys
XM_011533072.1:c.431T>G	XP_011531374.1:p.Phe144Cys
XM_011533069.2:c.464T>G	XP_011531371.1:p.Phe155Cys
XM_011533072.2:c.431T>G	XP_011531374.1:p.Phe144Cys
NM_000348.4:c.686T>G MANE Select	NP_000339.2:p.Phe229Cys