Canonical Allele Identifier: CA398979450

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283423G>T (hg19) ; chr17:g.30956405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956405G>T , CM000679.2:g.30956405G>T	GRCh38
NC_000017.10:g.29283423G>T , CM000679.1:g.29283423G>T	GRCh37
NC_000017.9:g.26307549G>T	NCBI36
NG_051975.1:g.39670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1047G>T MANE Select	ENSP00000329468.3:p.Gln349His
ENST00000330889.7:c.1047G>T	ENSP00000329468.3:p.Gln349His
ENST00000470962.1:n.467G>T
ENST00000480980.1:n.481G>T
ENST00000580525.5:c.1065G>T	ENSP00000464121.1:p.Gln355His
ENST00000581285.5:c.963G>T	ENSP00000464155.1:p.Gln321His
ENST00000584828.5:c.402+14G>T
ENST00000585130.5:c.*646G>T	ENSP00000464120.1:n.*646G>T
NM_018404.2:c.1047G>T	NP_060874.1:p.Gln349His
XM_005258008.2:c.1065G>T	XP_005258065.1:p.Gln355His
XM_005258011.2:c.1002G>T	XP_005258068.1:p.Gln334His
XM_006721973.2:c.1051+14G>T	XP_006722036.1:n.1051+14G>T
XM_011524993.1:c.1062G>T	XP_011523295.1:p.Gln354His
XM_011524994.1:c.1044G>T	XP_011523296.1:p.Gln348His
NM_001346712.1:c.1065G>T	NP_001333641.1:p.Gln355His
NM_001346714.1:c.1044G>T	NP_001333643.1:p.Gln348His
NM_001346716.1:c.1033+14G>T	NP_001333645.1:n.1033+14G>T
NR_144488.1:n.1246G>T
XM_024450831.1:c.1047G>T	XP_024306599.1:p.Gln349His
XM_024450832.1:c.1062G>T	XP_024306600.1:p.Gln354His
XM_024450833.1:c.1002G>T	XP_024306601.1:p.Gln334His
XM_024450834.1:c.1051+14G>T	XP_024306602.1:n.1051+14G>T
XM_024450835.1:c.681G>T	XP_024306603.1:p.Gln227His
NM_018404.3:c.1047G>T MANE Select	NP_060874.1:p.Gln349His
NM_001346712.2:c.1065G>T	NP_001333641.1:p.Gln355His
NM_001346714.2:c.1044G>T	NP_001333643.1:p.Gln348His
NM_001346716.2:c.1033+14G>T	NP_001333645.1:n.1033+14G>T
NR_144488.2:n.1037G>T