Canonical Allele Identifier: CA425567475

Gene: SRD5A2

Linked Data

• dbSNP Id: rs61748126
• COSMIC: COSN5028787 ; COSN15626516 ; COSN18748804 ; COSN20119087 ; COSN20119088 ; COSN20119089 ; COSN20119090
• MyVariant Identifiers: chr2:g.31754493G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529423G>A , CM000664.2:g.31529423G>A	GRCh38
NC_000002.11:g.31754493G>A , CM000664.1:g.31754493G>A	GRCh37
NC_000002.10:g.31607997G>A	NCBI36
NG_008365.1:g.56549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.582C>T MANE Select	ENSP00000477587.1:p.Phe194=
ENST00000622030.1:c.582C>T	ENSP00000477587.1:p.Phe194=
NM_000348.3:c.582C>T	NP_000339.2:p.Phe194=
XM_011533069.1:c.360C>T	XP_011531371.1:p.Phe120=
XM_011533070.1:c.327C>T	XP_011531372.1:p.Phe109=
XM_011533071.1:c.327C>T	XP_011531373.1:p.Phe109=
XM_011533072.1:c.327C>T	XP_011531374.1:p.Phe109=
XM_011533069.2:c.360C>T	XP_011531371.1:p.Phe120=
XM_011533072.2:c.327C>T	XP_011531374.1:p.Phe109=
NM_000348.4:c.582C>T MANE Select	NP_000339.2:p.Phe194=