Canonical Allele Identifier: CA398979369

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283404G>T (hg19) ; chr17:g.30956386G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956386G>T , CM000679.2:g.30956386G>T	GRCh38
NC_000017.10:g.29283404G>T , CM000679.1:g.29283404G>T	GRCh37
NC_000017.9:g.26307530G>T	NCBI36
NG_051975.1:g.39651G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1028G>T MANE Select	ENSP00000329468.3:p.Cys343Phe
ENST00000330889.7:c.1028G>T	ENSP00000329468.3:p.Cys343Phe
ENST00000470962.1:n.448G>T
ENST00000480980.1:n.462G>T
ENST00000580525.5:c.1046G>T	ENSP00000464121.1:p.Cys349Phe
ENST00000581285.5:c.944G>T	ENSP00000464155.1:p.Cys315Phe
ENST00000584828.5:c.397G>T
ENST00000585130.5:c.*627G>T	ENSP00000464120.1:n.*627G>T
NM_018404.2:c.1028G>T	NP_060874.1:p.Cys343Phe
XM_005258008.2:c.1046G>T	XP_005258065.1:p.Cys349Phe
XM_005258011.2:c.983G>T	XP_005258068.1:p.Cys328Phe
XM_006721973.2:c.1046G>T	XP_006722036.1:p.Cys349Phe
XM_011524993.1:c.1043G>T	XP_011523295.1:p.Cys348Phe
XM_011524994.1:c.1025G>T	XP_011523296.1:p.Cys342Phe
NM_001346712.1:c.1046G>T	NP_001333641.1:p.Cys349Phe
NM_001346714.1:c.1025G>T	NP_001333643.1:p.Cys342Phe
NM_001346716.1:c.1028G>T	NP_001333645.1:p.Cys343Phe
NR_144488.1:n.1227G>T
XM_024450831.1:c.1028G>T	XP_024306599.1:p.Cys343Phe
XM_024450832.1:c.1043G>T	XP_024306600.1:p.Cys348Phe
XM_024450833.1:c.983G>T	XP_024306601.1:p.Cys328Phe
XM_024450834.1:c.1046G>T	XP_024306602.1:p.Cys349Phe
XM_024450835.1:c.662G>T	XP_024306603.1:p.Cys221Phe
NM_018404.3:c.1028G>T MANE Select	NP_060874.1:p.Cys343Phe
NM_001346712.2:c.1046G>T	NP_001333641.1:p.Cys349Phe
NM_001346714.2:c.1025G>T	NP_001333643.1:p.Cys342Phe
NM_001346716.2:c.1028G>T	NP_001333645.1:p.Cys343Phe
NR_144488.2:n.1018G>T