Canonical Allele Identifier: CA398979470

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956412-T-A
• MyVariant Identifiers: chr17:g.29283430T>A (hg19) ; chr17:g.30956412T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956412T>A , CM000679.2:g.30956412T>A	GRCh38
NC_000017.10:g.29283430T>A , CM000679.1:g.29283430T>A	GRCh37
NC_000017.9:g.26307556T>A	NCBI36
NG_051975.1:g.39677T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1054T>A MANE Select	ENSP00000329468.3:p.Trp352Arg
ENST00000330889.7:c.1054T>A	ENSP00000329468.3:p.Trp352Arg
ENST00000470962.1:n.474T>A
ENST00000480980.1:n.488T>A
ENST00000580525.5:c.1072T>A	ENSP00000464121.1:p.Trp358Arg
ENST00000581285.5:c.970T>A	ENSP00000464155.1:p.Trp324Arg
ENST00000584828.5:c.402+21T>A
ENST00000585130.5:c.*653T>A	ENSP00000464120.1:n.*653T>A
NM_018404.2:c.1054T>A	NP_060874.1:p.Trp352Arg
XM_005258008.2:c.1072T>A	XP_005258065.1:p.Trp358Arg
XM_005258011.2:c.1009T>A	XP_005258068.1:p.Trp337Arg
XM_006721973.2:c.1051+21T>A	XP_006722036.1:n.1051+21T>A
XM_011524993.1:c.1069T>A	XP_011523295.1:p.Trp357Arg
XM_011524994.1:c.1051T>A	XP_011523296.1:p.Trp351Arg
NM_001346712.1:c.1072T>A	NP_001333641.1:p.Trp358Arg
NM_001346714.1:c.1051T>A	NP_001333643.1:p.Trp351Arg
NM_001346716.1:c.1033+21T>A	NP_001333645.1:n.1033+21T>A
NR_144488.1:n.1253T>A
XM_024450831.1:c.1054T>A	XP_024306599.1:p.Trp352Arg
XM_024450832.1:c.1069T>A	XP_024306600.1:p.Trp357Arg
XM_024450833.1:c.1009T>A	XP_024306601.1:p.Trp337Arg
XM_024450834.1:c.1051+21T>A	XP_024306602.1:n.1051+21T>A
XM_024450835.1:c.688T>A	XP_024306603.1:p.Trp230Arg
NM_018404.3:c.1054T>A MANE Select	NP_060874.1:p.Trp352Arg
NM_001346712.2:c.1072T>A	NP_001333641.1:p.Trp358Arg
NM_001346714.2:c.1051T>A	NP_001333643.1:p.Trp351Arg
NM_001346716.2:c.1033+21T>A	NP_001333645.1:n.1033+21T>A
NR_144488.2:n.1044T>A