Canonical Allele Identifier: CA398979352

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283398T>A (hg19) ; chr17:g.30956380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956380T>A , CM000679.2:g.30956380T>A	GRCh38
NC_000017.10:g.29283398T>A , CM000679.1:g.29283398T>A	GRCh37
NC_000017.9:g.26307524T>A	NCBI36
NG_051975.1:g.39645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1022T>A MANE Select	ENSP00000329468.3:p.Leu341His
ENST00000330889.7:c.1022T>A	ENSP00000329468.3:p.Leu341His
ENST00000470962.1:n.442T>A
ENST00000480980.1:n.456T>A
ENST00000580525.5:c.1040T>A	ENSP00000464121.1:p.Leu347His
ENST00000581285.5:c.938T>A	ENSP00000464155.1:p.Leu313His
ENST00000584828.5:c.391T>A
ENST00000585130.5:c.*621T>A	ENSP00000464120.1:n.*621T>A
NM_018404.2:c.1022T>A	NP_060874.1:p.Leu341His
XM_005258008.2:c.1040T>A	XP_005258065.1:p.Leu347His
XM_005258011.2:c.977T>A	XP_005258068.1:p.Leu326His
XM_006721973.2:c.1040T>A	XP_006722036.1:p.Leu347His
XM_011524993.1:c.1037T>A	XP_011523295.1:p.Leu346His
XM_011524994.1:c.1019T>A	XP_011523296.1:p.Leu340His
NM_001346712.1:c.1040T>A	NP_001333641.1:p.Leu347His
NM_001346714.1:c.1019T>A	NP_001333643.1:p.Leu340His
NM_001346716.1:c.1022T>A	NP_001333645.1:p.Leu341His
NR_144488.1:n.1221T>A
XM_024450831.1:c.1022T>A	XP_024306599.1:p.Leu341His
XM_024450832.1:c.1037T>A	XP_024306600.1:p.Leu346His
XM_024450833.1:c.977T>A	XP_024306601.1:p.Leu326His
XM_024450834.1:c.1040T>A	XP_024306602.1:p.Leu347His
XM_024450835.1:c.656T>A	XP_024306603.1:p.Leu219His
NM_018404.3:c.1022T>A MANE Select	NP_060874.1:p.Leu341His
NM_001346712.2:c.1040T>A	NP_001333641.1:p.Leu347His
NM_001346714.2:c.1019T>A	NP_001333643.1:p.Leu340His
NM_001346716.2:c.1022T>A	NP_001333645.1:p.Leu341His
NR_144488.2:n.1012T>A