Canonical Allele Identifier: CA398979109

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283328C>G (hg19) ; chr17:g.30956310C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956310C>G , CM000679.2:g.30956310C>G	GRCh38
NC_000017.10:g.29283328C>G , CM000679.1:g.29283328C>G	GRCh37
NC_000017.9:g.26307454C>G	NCBI36
NG_051975.1:g.39575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.952C>G MANE Select	ENSP00000329468.3:p.Pro318Ala
ENST00000330889.7:c.952C>G	ENSP00000329468.3:p.Pro318Ala
ENST00000470962.1:n.372C>G
ENST00000480980.1:n.386C>G
ENST00000580525.5:c.970C>G	ENSP00000464121.1:p.Pro324Ala
ENST00000581285.5:c.868C>G	ENSP00000464155.1:p.Pro290Ala
ENST00000584828.5:c.321C>G
ENST00000584989.1:c.244C>G	ENSP00000462634.1:p.Pro82Ala
ENST00000585130.5:c.*551C>G	ENSP00000464120.1:n.*551C>G
NM_018404.2:c.952C>G	NP_060874.1:p.Pro318Ala
XM_005258008.2:c.970C>G	XP_005258065.1:p.Pro324Ala
XM_005258011.2:c.907C>G	XP_005258068.1:p.Pro303Ala
XM_006721973.2:c.970C>G	XP_006722036.1:p.Pro324Ala
XM_011524993.1:c.967C>G	XP_011523295.1:p.Pro323Ala
XM_011524994.1:c.949C>G	XP_011523296.1:p.Pro317Ala
NM_001346712.1:c.970C>G	NP_001333641.1:p.Pro324Ala
NM_001346714.1:c.949C>G	NP_001333643.1:p.Pro317Ala
NM_001346716.1:c.952C>G	NP_001333645.1:p.Pro318Ala
NR_144488.1:n.1151C>G
XM_024450831.1:c.952C>G	XP_024306599.1:p.Pro318Ala
XM_024450832.1:c.967C>G	XP_024306600.1:p.Pro323Ala
XM_024450833.1:c.907C>G	XP_024306601.1:p.Pro303Ala
XM_024450834.1:c.970C>G	XP_024306602.1:p.Pro324Ala
XM_024450835.1:c.586C>G	XP_024306603.1:p.Pro196Ala
NM_018404.3:c.952C>G MANE Select	NP_060874.1:p.Pro318Ala
NM_001346712.2:c.970C>G	NP_001333641.1:p.Pro324Ala
NM_001346714.2:c.949C>G	NP_001333643.1:p.Pro317Ala
NM_001346716.2:c.952C>G	NP_001333645.1:p.Pro318Ala
NR_144488.2:n.942C>G