Canonical Allele Identifier: CA346598294

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 973099
• ClinVar RCV Id: RCV001249472
• dbSNP Id: rs1665904910
• MyVariant Identifiers: chr2:g.31756503T>G (hg19) ; chr2:g.31531433T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531433T>G , CM000664.2:g.31531433T>G	GRCh38
NC_000002.11:g.31756503T>G , CM000664.1:g.31756503T>G	GRCh37
NC_000002.10:g.31610007T>G	NCBI36
NG_008365.1:g.54539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.485A>C MANE Select	ENSP00000477587.1:p.His162Pro
ENST00000622030.1:c.485A>C	ENSP00000477587.1:p.His162Pro
NM_000348.3:c.485A>C	NP_000339.2:p.His162Pro
XM_011533069.1:c.263A>C	XP_011531371.1:p.His88Pro
XM_011533070.1:c.230A>C	XP_011531372.1:p.His77Pro
XM_011533071.1:c.230A>C	XP_011531373.1:p.His77Pro
XM_011533072.1:c.230A>C	XP_011531374.1:p.His77Pro
XM_011533069.2:c.263A>C	XP_011531371.1:p.His88Pro
XM_011533072.2:c.230A>C	XP_011531374.1:p.His77Pro
NM_000348.4:c.485A>C MANE Select	NP_000339.2:p.His162Pro