Canonical Allele Identifier: CA224911

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 97408
• ClinVar RCV Id: RCV000083658 ; RCV000686310
• dbSNP Id: rs61750397
• ExAC: 2:31754529 T / G
• gnomAD v2: 2-31754529-T-G
• gnomAD v3: 2-31529459-T-G
• gnomAD v4: 2-31529459-T-G
• MyVariant Identifiers: chr2:g.31754529T>G (hg19) ; chr2:g.31529459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529459T>G , CM000664.2:g.31529459T>G	GRCh38
NC_000002.11:g.31754529T>G , CM000664.1:g.31754529T>G	GRCh37
NC_000002.10:g.31608033T>G	NCBI36
NG_008365.1:g.56513A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.548-2A>C MANE Select	ENSP00000477587.1:n.548-2A>C
ENST00000622030.1:c.548-2A>C	ENSP00000477587.1:n.548-2A>C
NM_000348.3:c.548-2A>C	NP_000339.2:n.548-2A>C
XM_011533069.1:c.326-2A>C	XP_011531371.1:n.326-2A>C
XM_011533070.1:c.293-2A>C	XP_011531372.1:n.293-2A>C
XM_011533071.1:c.293-2A>C	XP_011531373.1:n.293-2A>C
XM_011533072.1:c.293-2A>C	XP_011531374.1:n.293-2A>C
XM_011533069.2:c.326-2A>C	XP_011531371.1:n.326-2A>C
XM_011533072.2:c.293-2A>C	XP_011531374.1:n.293-2A>C
NM_000348.4:c.548-2A>C MANE Select	NP_000339.2:n.548-2A>C