Canonical Allele Identifier: CA531710581

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2739051
• ClinVar RCV Id: RCV003501793
• dbSNP Id: rs1291250228
• gnomAD v2: 2-31751347-A-G
• gnomAD v3: 2-31526277-A-G
• gnomAD v4: 2-31526277-A-G
• MyVariant Identifiers: chr2:g.31751347A>G (hg19) ; chr2:g.31526277A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526277A>G , CM000664.2:g.31526277A>G	GRCh38
NC_000002.11:g.31751347A>G , CM000664.1:g.31751347A>G	GRCh37
NC_000002.10:g.31604851A>G	NCBI36
NG_008365.1:g.59695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.699-15T>C MANE Select	ENSP00000477587.1:n.699-15T>C
ENST00000622030.1:c.699-15T>C	ENSP00000477587.1:n.699-15T>C
NM_000348.3:c.699-15T>C	NP_000339.2:n.699-15T>C
XM_011533069.1:c.477-15T>C	XP_011531371.1:n.477-15T>C
XM_011533070.1:c.444-15T>C	XP_011531372.1:n.444-15T>C
XM_011533071.1:c.444-15T>C	XP_011531373.1:n.444-15T>C
XM_011533072.1:c.444-15T>C	XP_011531374.1:n.444-15T>C
XM_011533069.2:c.477-15T>C	XP_011531371.1:n.477-15T>C
XM_011533072.2:c.444-15T>C	XP_011531374.1:n.444-15T>C
NM_000348.4:c.699-15T>C MANE Select	NP_000339.2:n.699-15T>C