Canonical Allele Identifier: CA8485039

Gene: ADAP2

Linked Data

• dbSNP Id: rs747313698
• ExAC: 17:29283259 G / A
• gnomAD v2: 17-29283259-G-A
• gnomAD v4: 17-30956241-G-A
• MyVariant Identifiers: chr17:g.29283259G>A (hg19) ; chr17:g.30956241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956241G>A , CM000679.2:g.30956241G>A	GRCh38
NC_000017.10:g.29283259G>A , CM000679.1:g.29283259G>A	GRCh37
NC_000017.9:g.26307385G>A	NCBI36
NG_051975.1:g.39506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.883G>A MANE Select	ENSP00000329468.3:p.Asp295Asn
ENST00000330889.7:c.883G>A	ENSP00000329468.3:p.Asp295Asn
ENST00000470962.1:n.303G>A
ENST00000480980.1:n.317G>A
ENST00000580525.5:c.901G>A	ENSP00000464121.1:p.Asp301Asn
ENST00000581285.5:c.799G>A	ENSP00000464155.1:p.Asp267Asn
ENST00000584828.5:c.252G>A
ENST00000584989.1:c.175G>A	ENSP00000462634.1:p.Asp59Asn
ENST00000585130.5:c.*482G>A	ENSP00000464120.1:n.*482G>A
NM_018404.2:c.883G>A	NP_060874.1:p.Asp295Asn
XM_005258008.2:c.901G>A	XP_005258065.1:p.Asp301Asn
XM_005258011.2:c.838G>A	XP_005258068.1:p.Asp280Asn
XM_006721973.2:c.901G>A	XP_006722036.1:p.Asp301Asn
XM_011524993.1:c.898G>A	XP_011523295.1:p.Asp300Asn
XM_011524994.1:c.880G>A	XP_011523296.1:p.Asp294Asn
NM_001346712.1:c.901G>A	NP_001333641.1:p.Asp301Asn
NM_001346714.1:c.880G>A	NP_001333643.1:p.Asp294Asn
NM_001346716.1:c.883G>A	NP_001333645.1:p.Asp295Asn
NR_144488.1:n.1082G>A
XM_024450831.1:c.883G>A	XP_024306599.1:p.Asp295Asn
XM_024450832.1:c.898G>A	XP_024306600.1:p.Asp300Asn
XM_024450833.1:c.838G>A	XP_024306601.1:p.Asp280Asn
XM_024450834.1:c.901G>A	XP_024306602.1:p.Asp301Asn
XM_024450835.1:c.517G>A	XP_024306603.1:p.Asp173Asn
NM_018404.3:c.883G>A MANE Select	NP_060874.1:p.Asp295Asn
NM_001346712.2:c.901G>A	NP_001333641.1:p.Asp301Asn
NM_001346714.2:c.880G>A	NP_001333643.1:p.Asp294Asn
NM_001346716.2:c.883G>A	NP_001333645.1:p.Asp295Asn
NR_144488.2:n.873G>A