Canonical Allele Identifier: CA8485050

Gene: ADAP2

Linked Data

• dbSNP Id: rs754089542
• ExAC: 17:29283300 G / T
• gnomAD v2: 17-29283300-G-T
• gnomAD v3: 17-30956282-G-T
• gnomAD v4: 17-30956282-G-T
• MyVariant Identifiers: chr17:g.29283300G>T (hg19) ; chr17:g.30956282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956282G>T , CM000679.2:g.30956282G>T	GRCh38
NC_000017.10:g.29283300G>T , CM000679.1:g.29283300G>T	GRCh37
NC_000017.9:g.26307426G>T	NCBI36
NG_051975.1:g.39547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.924G>T MANE Select	ENSP00000329468.3:p.Glu308Asp
ENST00000330889.7:c.924G>T	ENSP00000329468.3:p.Glu308Asp
ENST00000470962.1:n.344G>T
ENST00000480980.1:n.358G>T
ENST00000580525.5:c.942G>T	ENSP00000464121.1:p.Glu314Asp
ENST00000581285.5:c.840G>T	ENSP00000464155.1:p.Glu280Asp
ENST00000584828.5:c.293G>T
ENST00000584989.1:c.216G>T	ENSP00000462634.1:p.Glu72Asp
ENST00000585130.5:c.*523G>T	ENSP00000464120.1:n.*523G>T
NM_018404.2:c.924G>T	NP_060874.1:p.Glu308Asp
XM_005258008.2:c.942G>T	XP_005258065.1:p.Glu314Asp
XM_005258011.2:c.879G>T	XP_005258068.1:p.Glu293Asp
XM_006721973.2:c.942G>T	XP_006722036.1:p.Glu314Asp
XM_011524993.1:c.939G>T	XP_011523295.1:p.Glu313Asp
XM_011524994.1:c.921G>T	XP_011523296.1:p.Glu307Asp
NM_001346712.1:c.942G>T	NP_001333641.1:p.Glu314Asp
NM_001346714.1:c.921G>T	NP_001333643.1:p.Glu307Asp
NM_001346716.1:c.924G>T	NP_001333645.1:p.Glu308Asp
NR_144488.1:n.1123G>T
XM_024450831.1:c.924G>T	XP_024306599.1:p.Glu308Asp
XM_024450832.1:c.939G>T	XP_024306600.1:p.Glu313Asp
XM_024450833.1:c.879G>T	XP_024306601.1:p.Glu293Asp
XM_024450834.1:c.942G>T	XP_024306602.1:p.Glu314Asp
XM_024450835.1:c.558G>T	XP_024306603.1:p.Glu186Asp
NM_018404.3:c.924G>T MANE Select	NP_060874.1:p.Glu308Asp
NM_001346712.2:c.942G>T	NP_001333641.1:p.Glu314Asp
NM_001346714.2:c.921G>T	NP_001333643.1:p.Glu307Asp
NM_001346716.2:c.924G>T	NP_001333645.1:p.Glu308Asp
NR_144488.2:n.914G>T