Canonical Allele Identifier: CA289356427

Gene: ADAP2

Linked Data

• dbSNP Id: rs956226574
• gnomAD v2: 17-29283350-G-A
• gnomAD v3: 17-30956332-G-A
• gnomAD v4: 17-30956332-G-A
• MyVariant Identifiers: chr17:g.29283350G>A (hg19) ; chr17:g.30956332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956332G>A , CM000679.2:g.30956332G>A	GRCh38
NC_000017.10:g.29283350G>A , CM000679.1:g.29283350G>A	GRCh37
NC_000017.9:g.26307476G>A	NCBI36
NG_051975.1:g.39597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.974G>A MANE Select	ENSP00000329468.3:p.Arg325His
ENST00000330889.7:c.974G>A	ENSP00000329468.3:p.Arg325His
ENST00000470962.1:n.394G>A
ENST00000480980.1:n.408G>A
ENST00000580525.5:c.992G>A	ENSP00000464121.1:p.Arg331His
ENST00000581285.5:c.890G>A	ENSP00000464155.1:p.Arg297His
ENST00000584828.5:c.343G>A
ENST00000584989.1:c.266G>A	ENSP00000462634.1:p.Arg89His
ENST00000585130.5:c.*573G>A	ENSP00000464120.1:n.*573G>A
NM_018404.2:c.974G>A	NP_060874.1:p.Arg325His
XM_005258008.2:c.992G>A	XP_005258065.1:p.Arg331His
XM_005258011.2:c.929G>A	XP_005258068.1:p.Arg310His
XM_006721973.2:c.992G>A	XP_006722036.1:p.Arg331His
XM_011524993.1:c.989G>A	XP_011523295.1:p.Arg330His
XM_011524994.1:c.971G>A	XP_011523296.1:p.Arg324His
NM_001346712.1:c.992G>A	NP_001333641.1:p.Arg331His
NM_001346714.1:c.971G>A	NP_001333643.1:p.Arg324His
NM_001346716.1:c.974G>A	NP_001333645.1:p.Arg325His
NR_144488.1:n.1173G>A
XM_024450831.1:c.974G>A	XP_024306599.1:p.Arg325His
XM_024450832.1:c.989G>A	XP_024306600.1:p.Arg330His
XM_024450833.1:c.929G>A	XP_024306601.1:p.Arg310His
XM_024450834.1:c.992G>A	XP_024306602.1:p.Arg331His
XM_024450835.1:c.608G>A	XP_024306603.1:p.Arg203His
NM_018404.3:c.974G>A MANE Select	NP_060874.1:p.Arg325His
NM_001346712.2:c.992G>A	NP_001333641.1:p.Arg331His
NM_001346714.2:c.971G>A	NP_001333643.1:p.Arg324His
NM_001346716.2:c.974G>A	NP_001333645.1:p.Arg325His
NR_144488.2:n.964G>A