Canonical Allele Identifier: CA346598313

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31756510T>G (hg19) ; chr2:g.31531440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531440T>G , CM000664.2:g.31531440T>G	GRCh38
NC_000002.11:g.31756510T>G , CM000664.1:g.31756510T>G	GRCh37
NC_000002.10:g.31610014T>G	NCBI36
NG_008365.1:g.54532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.478A>C MANE Select	ENSP00000477587.1:p.Asn160His
ENST00000622030.1:c.478A>C	ENSP00000477587.1:p.Asn160His
NM_000348.3:c.478A>C	NP_000339.2:p.Asn160His
XM_011533069.1:c.256A>C	XP_011531371.1:p.Asn86His
XM_011533070.1:c.223A>C	XP_011531372.1:p.Asn75His
XM_011533071.1:c.223A>C	XP_011531373.1:p.Asn75His
XM_011533072.1:c.223A>C	XP_011531374.1:p.Asn75His
XM_011533069.2:c.256A>C	XP_011531371.1:p.Asn86His
XM_011533072.2:c.223A>C	XP_011531374.1:p.Asn75His
NM_000348.4:c.478A>C MANE Select	NP_000339.2:p.Asn160His