Canonical Allele Identifier: CA8485049

Gene: ADAP2

Linked Data

• dbSNP Id: rs766749713
• ExAC: 17:29283297 G / A
• gnomAD v2: 17-29283297-G-A
• MyVariant Identifiers: chr17:g.29283297G>A (hg19) ; chr17:g.30956279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956279G>A , CM000679.2:g.30956279G>A	GRCh38
NC_000017.10:g.29283297G>A , CM000679.1:g.29283297G>A	GRCh37
NC_000017.9:g.26307423G>A	NCBI36
NG_051975.1:g.39544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.921G>A MANE Select	ENSP00000329468.3:p.Lys307=
ENST00000330889.7:c.921G>A	ENSP00000329468.3:p.Lys307=
ENST00000470962.1:n.341G>A
ENST00000480980.1:n.355G>A
ENST00000580525.5:c.939G>A	ENSP00000464121.1:p.Lys313=
ENST00000581285.5:c.837G>A	ENSP00000464155.1:p.Lys279=
ENST00000584828.5:c.290G>A
ENST00000584989.1:c.213G>A	ENSP00000462634.1:p.Lys71=
ENST00000585130.5:c.*520G>A	ENSP00000464120.1:n.*520G>A
NM_018404.2:c.921G>A	NP_060874.1:p.Lys307=
XM_005258008.2:c.939G>A	XP_005258065.1:p.Lys313=
XM_005258011.2:c.876G>A	XP_005258068.1:p.Lys292=
XM_006721973.2:c.939G>A	XP_006722036.1:p.Lys313=
XM_011524993.1:c.936G>A	XP_011523295.1:p.Lys312=
XM_011524994.1:c.918G>A	XP_011523296.1:p.Lys306=
NM_001346712.1:c.939G>A	NP_001333641.1:p.Lys313=
NM_001346714.1:c.918G>A	NP_001333643.1:p.Lys306=
NM_001346716.1:c.921G>A	NP_001333645.1:p.Lys307=
NR_144488.1:n.1120G>A
XM_024450831.1:c.921G>A	XP_024306599.1:p.Lys307=
XM_024450832.1:c.936G>A	XP_024306600.1:p.Lys312=
XM_024450833.1:c.876G>A	XP_024306601.1:p.Lys292=
XM_024450834.1:c.939G>A	XP_024306602.1:p.Lys313=
XM_024450835.1:c.555G>A	XP_024306603.1:p.Lys185=
NM_018404.3:c.921G>A MANE Select	NP_060874.1:p.Lys307=
NM_001346712.2:c.939G>A	NP_001333641.1:p.Lys313=
NM_001346714.2:c.918G>A	NP_001333643.1:p.Lys306=
NM_001346716.2:c.921G>A	NP_001333645.1:p.Lys307=
NR_144488.2:n.911G>A