Canonical Allele Identifier: CA398979052

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283303G>C (hg19) ; chr17:g.30956285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956285G>C , CM000679.2:g.30956285G>C	GRCh38
NC_000017.10:g.29283303G>C , CM000679.1:g.29283303G>C	GRCh37
NC_000017.9:g.26307429G>C	NCBI36
NG_051975.1:g.39550G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.927G>C MANE Select	ENSP00000329468.3:p.Gln309His
ENST00000330889.7:c.927G>C	ENSP00000329468.3:p.Gln309His
ENST00000470962.1:n.347G>C
ENST00000480980.1:n.361G>C
ENST00000580525.5:c.945G>C	ENSP00000464121.1:p.Gln315His
ENST00000581285.5:c.843G>C	ENSP00000464155.1:p.Gln281His
ENST00000584828.5:c.296G>C
ENST00000584989.1:c.219G>C	ENSP00000462634.1:p.Gln73His
ENST00000585130.5:c.*526G>C	ENSP00000464120.1:n.*526G>C
NM_018404.2:c.927G>C	NP_060874.1:p.Gln309His
XM_005258008.2:c.945G>C	XP_005258065.1:p.Gln315His
XM_005258011.2:c.882G>C	XP_005258068.1:p.Gln294His
XM_006721973.2:c.945G>C	XP_006722036.1:p.Gln315His
XM_011524993.1:c.942G>C	XP_011523295.1:p.Gln314His
XM_011524994.1:c.924G>C	XP_011523296.1:p.Gln308His
NM_001346712.1:c.945G>C	NP_001333641.1:p.Gln315His
NM_001346714.1:c.924G>C	NP_001333643.1:p.Gln308His
NM_001346716.1:c.927G>C	NP_001333645.1:p.Gln309His
NR_144488.1:n.1126G>C
XM_024450831.1:c.927G>C	XP_024306599.1:p.Gln309His
XM_024450832.1:c.942G>C	XP_024306600.1:p.Gln314His
XM_024450833.1:c.882G>C	XP_024306601.1:p.Gln294His
XM_024450834.1:c.945G>C	XP_024306602.1:p.Gln315His
XM_024450835.1:c.561G>C	XP_024306603.1:p.Gln187His
NM_018404.3:c.927G>C MANE Select	NP_060874.1:p.Gln309His
NM_001346712.2:c.945G>C	NP_001333641.1:p.Gln315His
NM_001346714.2:c.924G>C	NP_001333643.1:p.Gln308His
NM_001346716.2:c.927G>C	NP_001333645.1:p.Gln309His
NR_144488.2:n.917G>C