Canonical Allele Identifier: CA531769407

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1258199711
• gnomAD v2: 2-31758874-T-TA
• gnomAD v4: 2-31533804-T-TA
• MyVariant Identifiers: chr2:g.31758874_31758875insA (hg19) ; chr2:g.31533804_31533805insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533810dup , CM000664.2:g.31533810dup	GRCh38
NC_000002.11:g.31758880dup , CM000664.1:g.31758880dup	GRCh37
NC_000002.10:g.31612384dup	NCBI36
NG_008365.1:g.52167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.282-39dup MANE Select	ENSP00000477587.1:n.282-39dup
ENST00000622030.1:c.282-39dup	ENSP00000477587.1:n.282-39dup
NM_000348.3:c.282-39dup	NP_000339.2:n.282-39dup
XM_011533068.1:c.282-39dup	XP_011531370.1:n.282-39dup
XM_011533069.1:c.60-39dup	XP_011531371.1:n.60-39dup
XM_011533070.1:c.27-39dup	XP_011531372.1:n.27-39dup
XM_011533071.1:c.27-39dup	XP_011531373.1:n.27-39dup
XM_011533072.1:c.27-39dup	XP_011531374.1:n.27-39dup
XM_011533069.2:c.60-39dup	XP_011531371.1:n.60-39dup
XM_011533072.2:c.27-39dup	XP_011531374.1:n.27-39dup
NM_000348.4:c.282-39dup MANE Select	NP_000339.2:n.282-39dup