Canonical Allele Identifier: CA224895

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 97397
• ClinVar RCV Id: RCV000083647 ; RCV001453334
• dbSNP Id: rs61750388
• ExAC: 2:31805761 C / T
• gnomAD v2: 2-31805761-C-T
• gnomAD v3: 2-31580691-C-T
• gnomAD v4: 2-31580691-C-T
• MyVariant Identifiers: chr2:g.31805761C>T (hg19) ; chr2:g.31580691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580691C>T , CM000664.2:g.31580691C>T	GRCh38
NC_000002.11:g.31805761C>T , CM000664.1:g.31805761C>T	GRCh37
NC_000002.10:g.31659265C>T	NCBI36
NG_008365.1:g.5281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.210G>A MANE Select	ENSP00000477587.1:p.Arg70=
ENST00000622030.1:c.210G>A	ENSP00000477587.1:p.Arg70=
NM_000348.3:c.210G>A	NP_000339.2:p.Arg70=
XM_011533068.1:c.210G>A	XP_011531370.1:p.Arg70=
XM_011533070.1:c.27-46925G>A	XP_011531372.1:n.27-46925G>A
XM_011533071.1:c.27-46925G>A	XP_011531373.1:n.27-46925G>A
XM_011533072.1:c.27-46925G>A	XP_011531374.1:n.27-46925G>A
XM_011533072.2:c.27-46925G>A	XP_011531374.1:n.27-46925G>A
NM_000348.4:c.210G>A MANE Select	NP_000339.2:p.Arg70=