Canonical Allele Identifier: CA45140677

Gene: SRD5A2

Linked Data

• dbSNP Id: rs190581849
• gnomAD v2: 2-31793485-G-C
• gnomAD v3: 2-31568415-G-C
• gnomAD v4: 2-31568415-G-C
• MyVariant Identifiers: chr2:g.31793485G>C (hg19) ; chr2:g.31568415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31568415G>C , CM000664.2:g.31568415G>C	GRCh38
NC_000002.11:g.31793485G>C , CM000664.1:g.31793485G>C	GRCh37
NC_000002.10:g.31646989G>C	NCBI36
NG_008365.1:g.17557C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12205C>G MANE Select	ENSP00000477587.1:n.281+12205C>G
ENST00000622030.1:c.281+12205C>G	ENSP00000477587.1:n.281+12205C>G
NM_000348.3:c.281+12205C>G	NP_000339.2:n.281+12205C>G
XM_011533068.1:c.281+12205C>G	XP_011531370.1:n.281+12205C>G
XM_011533070.1:c.27-34649C>G	XP_011531372.1:n.27-34649C>G
XM_011533071.1:c.27-34649C>G	XP_011531373.1:n.27-34649C>G
XM_011533072.1:c.27-34649C>G	XP_011531374.1:n.27-34649C>G
XM_011533072.2:c.27-34649C>G	XP_011531374.1:n.27-34649C>G
NM_000348.4:c.281+12205C>G MANE Select	NP_000339.2:n.281+12205C>G