Canonical Allele Identifier: CA767779774

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1450748932
• gnomAD v3: 2-31568176-T-TC
• gnomAD v4: 2-31568176-T-TC
• MyVariant Identifiers: chr2:g.31793246_31793247insC (hg19) ; chr2:g.31568176_31568177insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31568177dup , CM000664.2:g.31568177dup	GRCh38
NC_000002.11:g.31793247dup , CM000664.1:g.31793247dup	GRCh37
NC_000002.10:g.31646751dup	NCBI36
NG_008365.1:g.17795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12443dup MANE Select	ENSP00000477587.1:n.281+12443dup
ENST00000622030.1:c.281+12443dup	ENSP00000477587.1:n.281+12443dup
NM_000348.3:c.281+12443dup	NP_000339.2:n.281+12443dup
XM_011533068.1:c.281+12443dup	XP_011531370.1:n.281+12443dup
XM_011533070.1:c.27-34411dup	XP_011531372.1:n.27-34411dup
XM_011533071.1:c.27-34411dup	XP_011531373.1:n.27-34411dup
XM_011533072.1:c.27-34411dup	XP_011531374.1:n.27-34411dup
XM_011533072.2:c.27-34411dup	XP_011531374.1:n.27-34411dup
NM_000348.4:c.281+12443dup MANE Select	NP_000339.2:n.281+12443dup