Canonical Allele Identifier: CA1242198292

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2886450
• ClinVar RCV Id: RCV003608547
• dbSNP Id: rs1665901770
• gnomAD v4: 2-31531352-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531352G>C , CM000664.2:g.31531352G>C	GRCh38
NC_000002.11:g.31756422G>C , CM000664.1:g.31756422G>C	GRCh37
NC_000002.10:g.31609926G>C	NCBI36
NG_008365.1:g.54620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+19C>G MANE Select	ENSP00000477587.1:n.547+19C>G
ENST00000622030.1:c.547+19C>G	ENSP00000477587.1:n.547+19C>G
NM_000348.3:c.547+19C>G	NP_000339.2:n.547+19C>G
XM_011533069.1:c.325+19C>G	XP_011531371.1:n.325+19C>G
XM_011533070.1:c.292+19C>G	XP_011531372.1:n.292+19C>G
XM_011533071.1:c.292+19C>G	XP_011531373.1:n.292+19C>G
XM_011533072.1:c.292+19C>G	XP_011531374.1:n.292+19C>G
XM_011533069.2:c.325+19C>G	XP_011531371.1:n.325+19C>G
XM_011533072.2:c.292+19C>G	XP_011531374.1:n.292+19C>G
NM_000348.4:c.547+19C>G MANE Select	NP_000339.2:n.547+19C>G