Canonical Allele Identifier: CA45136017

Gene: SRD5A2

Linked Data

• dbSNP Id: rs911453051
• gnomAD v2: 2-31751653-G-GA
• gnomAD v3: 2-31526583-G-GA
• gnomAD v4: 2-31526583-G-GA
• MyVariant Identifiers: chr2:g.31751653_31751654insA (hg19) ; chr2:g.31526583_31526584insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526592dup , CM000664.2:g.31526592dup	GRCh38
NC_000002.11:g.31751662dup , CM000664.1:g.31751662dup	GRCh37
NC_000002.10:g.31605166dup	NCBI36
NG_008365.1:g.59388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.699-322dup MANE Select	ENSP00000477587.1:n.699-322dup
ENST00000622030.1:c.699-322dup	ENSP00000477587.1:n.699-322dup
NM_000348.3:c.699-322dup	NP_000339.2:n.699-322dup
XM_011533069.1:c.477-322dup	XP_011531371.1:n.477-322dup
XM_011533070.1:c.444-322dup	XP_011531372.1:n.444-322dup
XM_011533071.1:c.444-322dup	XP_011531373.1:n.444-322dup
XM_011533072.1:c.444-322dup	XP_011531374.1:n.444-322dup
XM_011533069.2:c.477-322dup	XP_011531371.1:n.477-322dup
XM_011533072.2:c.444-322dup	XP_011531374.1:n.444-322dup
NM_000348.4:c.699-322dup MANE Select	NP_000339.2:n.699-322dup