Canonical Allele Identifier: CA499226044

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956252-G-A
• COSMIC: COSM977376
• MyVariant Identifiers: chr17:g.29283270G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956252G>A , CM000679.2:g.30956252G>A	GRCh38
NC_000017.10:g.29283270G>A , CM000679.1:g.29283270G>A	GRCh37
NC_000017.9:g.26307396G>A	NCBI36
NG_051975.1:g.39517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.894G>A MANE Select	ENSP00000329468.3:p.Glu298=
ENST00000330889.7:c.894G>A	ENSP00000329468.3:p.Glu298=
ENST00000470962.1:n.314G>A
ENST00000480980.1:n.328G>A
ENST00000580525.5:c.912G>A	ENSP00000464121.1:p.Glu304=
ENST00000581285.5:c.810G>A	ENSP00000464155.1:p.Glu270=
ENST00000584828.5:c.263G>A
ENST00000584989.1:c.186G>A	ENSP00000462634.1:p.Glu62=
ENST00000585130.5:c.*493G>A	ENSP00000464120.1:n.*493G>A
NM_018404.2:c.894G>A	NP_060874.1:p.Glu298=
XM_005258008.2:c.912G>A	XP_005258065.1:p.Glu304=
XM_005258011.2:c.849G>A	XP_005258068.1:p.Glu283=
XM_006721973.2:c.912G>A	XP_006722036.1:p.Glu304=
XM_011524993.1:c.909G>A	XP_011523295.1:p.Glu303=
XM_011524994.1:c.891G>A	XP_011523296.1:p.Glu297=
NM_001346712.1:c.912G>A	NP_001333641.1:p.Glu304=
NM_001346714.1:c.891G>A	NP_001333643.1:p.Glu297=
NM_001346716.1:c.894G>A	NP_001333645.1:p.Glu298=
NR_144488.1:n.1093G>A
XM_024450831.1:c.894G>A	XP_024306599.1:p.Glu298=
XM_024450832.1:c.909G>A	XP_024306600.1:p.Glu303=
XM_024450833.1:c.849G>A	XP_024306601.1:p.Glu283=
XM_024450834.1:c.912G>A	XP_024306602.1:p.Glu304=
XM_024450835.1:c.528G>A	XP_024306603.1:p.Glu176=
NM_018404.3:c.894G>A MANE Select	NP_060874.1:p.Glu298=
NM_001346712.2:c.912G>A	NP_001333641.1:p.Glu304=
NM_001346714.2:c.891G>A	NP_001333643.1:p.Glu297=
NM_001346716.2:c.894G>A	NP_001333645.1:p.Glu298=
NR_144488.2:n.884G>A