Canonical Allele Identifier: CA45136786

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2703694
• ClinVar RCV Id: RCV003501148
• dbSNP Id: rs891598499
• gnomAD v2: 2-31758834-G-A
• gnomAD v3: 2-31533764-G-A
• gnomAD v4: 2-31533764-G-A
• MyVariant Identifiers: chr2:g.31758834G>A (hg19) ; chr2:g.31533764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533764G>A , CM000664.2:g.31533764G>A	GRCh38
NC_000002.11:g.31758834G>A , CM000664.1:g.31758834G>A	GRCh37
NC_000002.10:g.31612338G>A	NCBI36
NG_008365.1:g.52208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.284C>T MANE Select	ENSP00000477587.1:p.Thr95Ile
ENST00000622030.1:c.284C>T	ENSP00000477587.1:p.Thr95Ile
NM_000348.3:c.284C>T	NP_000339.2:p.Thr95Ile
XM_011533068.1:c.284C>T	XP_011531370.1:p.Thr95Ile
XM_011533069.1:c.62C>T	XP_011531371.1:p.Thr21Ile
XM_011533070.1:c.29C>T	XP_011531372.1:p.Thr10Ile
XM_011533071.1:c.29C>T	XP_011531373.1:p.Thr10Ile
XM_011533072.1:c.29C>T	XP_011531374.1:p.Thr10Ile
XM_011533069.2:c.62C>T	XP_011531371.1:p.Thr21Ile
XM_011533072.2:c.29C>T	XP_011531374.1:p.Thr10Ile
NM_000348.4:c.284C>T MANE Select	NP_000339.2:p.Thr95Ile