Canonical Allele Identifier: CA289356574

Gene: ADAP2

Linked Data

• dbSNP Id: rs930649492
• gnomAD v3: 17-30956401-A-T
• gnomAD v4: 17-30956401-A-T
• MyVariant Identifiers: chr17:g.29283419A>T (hg19) ; chr17:g.30956401A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956401A>T , CM000679.2:g.30956401A>T	GRCh38
NC_000017.10:g.29283419A>T , CM000679.1:g.29283419A>T	GRCh37
NC_000017.9:g.26307545A>T	NCBI36
NG_051975.1:g.39666A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1043A>T MANE Select	ENSP00000329468.3:p.Glu348Val
ENST00000330889.7:c.1043A>T	ENSP00000329468.3:p.Glu348Val
ENST00000470962.1:n.463A>T
ENST00000480980.1:n.477A>T
ENST00000580525.5:c.1061A>T	ENSP00000464121.1:p.Glu354Val
ENST00000581285.5:c.959A>T	ENSP00000464155.1:p.Glu320Val
ENST00000584828.5:c.402+10A>T
ENST00000585130.5:c.*642A>T	ENSP00000464120.1:n.*642A>T
NM_018404.2:c.1043A>T	NP_060874.1:p.Glu348Val
XM_005258008.2:c.1061A>T	XP_005258065.1:p.Glu354Val
XM_005258011.2:c.998A>T	XP_005258068.1:p.Glu333Val
XM_006721973.2:c.1051+10A>T	XP_006722036.1:n.1051+10A>T
XM_011524993.1:c.1058A>T	XP_011523295.1:p.Glu353Val
XM_011524994.1:c.1040A>T	XP_011523296.1:p.Glu347Val
NM_001346712.1:c.1061A>T	NP_001333641.1:p.Glu354Val
NM_001346714.1:c.1040A>T	NP_001333643.1:p.Glu347Val
NM_001346716.1:c.1033+10A>T	NP_001333645.1:n.1033+10A>T
NR_144488.1:n.1242A>T
XM_024450831.1:c.1043A>T	XP_024306599.1:p.Glu348Val
XM_024450832.1:c.1058A>T	XP_024306600.1:p.Glu353Val
XM_024450833.1:c.998A>T	XP_024306601.1:p.Glu333Val
XM_024450834.1:c.1051+10A>T	XP_024306602.1:n.1051+10A>T
XM_024450835.1:c.677A>T	XP_024306603.1:p.Glu226Val
NM_018404.3:c.1043A>T MANE Select	NP_060874.1:p.Glu348Val
NM_001346712.2:c.1061A>T	NP_001333641.1:p.Glu354Val
NM_001346714.2:c.1040A>T	NP_001333643.1:p.Glu347Val
NM_001346716.2:c.1033+10A>T	NP_001333645.1:n.1033+10A>T
NR_144488.2:n.1033A>T