Canonical Allele Identifier: CA531769319

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1286209620
• gnomAD v2: 2-31805678-G-A
• MyVariant Identifiers: chr2:g.31805678G>A (hg19) ; chr2:g.31580608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580608G>A , CM000664.2:g.31580608G>A	GRCh38
NC_000002.11:g.31805678G>A , CM000664.1:g.31805678G>A	GRCh37
NC_000002.10:g.31659182G>A	NCBI36
NG_008365.1:g.5364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12C>T MANE Select	ENSP00000477587.1:n.281+12C>T
ENST00000622030.1:c.281+12C>T	ENSP00000477587.1:n.281+12C>T
NM_000348.3:c.281+12C>T	NP_000339.2:n.281+12C>T
XM_011533068.1:c.281+12C>T	XP_011531370.1:n.281+12C>T
XM_011533070.1:c.27-46842C>T	XP_011531372.1:n.27-46842C>T
XM_011533071.1:c.27-46842C>T	XP_011531373.1:n.27-46842C>T
XM_011533072.1:c.27-46842C>T	XP_011531374.1:n.27-46842C>T
XM_011533072.2:c.27-46842C>T	XP_011531374.1:n.27-46842C>T
NM_000348.4:c.281+12C>T MANE Select	NP_000339.2:n.281+12C>T