Canonical Allele Identifier: CA531711311

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1218830991
• gnomAD v2: 2-31754291-T-A
• gnomAD v3: 2-31529221-T-A
• gnomAD v4: 2-31529221-T-A
• MyVariant Identifiers: chr2:g.31754291T>A (hg19) ; chr2:g.31529221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529221T>A , CM000664.2:g.31529221T>A	GRCh38
NC_000002.11:g.31754291T>A , CM000664.1:g.31754291T>A	GRCh37
NC_000002.10:g.31607795T>A	NCBI36
NG_008365.1:g.56751A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.698+86A>T MANE Select	ENSP00000477587.1:n.698+86A>T
ENST00000622030.1:c.698+86A>T	ENSP00000477587.1:n.698+86A>T
NM_000348.3:c.698+86A>T	NP_000339.2:n.698+86A>T
XM_011533069.1:c.476+86A>T	XP_011531371.1:n.476+86A>T
XM_011533070.1:c.443+86A>T	XP_011531372.1:n.443+86A>T
XM_011533071.1:c.443+86A>T	XP_011531373.1:n.443+86A>T
XM_011533072.1:c.443+86A>T	XP_011531374.1:n.443+86A>T
XM_011533069.2:c.476+86A>T	XP_011531371.1:n.476+86A>T
XM_011533072.2:c.443+86A>T	XP_011531374.1:n.443+86A>T
NM_000348.4:c.698+86A>T MANE Select	NP_000339.2:n.698+86A>T