Canonical Allele Identifier: CA499227203

Gene: ADAP2

Linked Data

• dbSNP Id: rs1190634929
• gnomAD v4: 17-30956408-G-A
• MyVariant Identifiers: chr17:g.29283426G>A (hg19) ; chr17:g.30956408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956408G>A , CM000679.2:g.30956408G>A	GRCh38
NC_000017.10:g.29283426G>A , CM000679.1:g.29283426G>A	GRCh37
NC_000017.9:g.26307552G>A	NCBI36
NG_051975.1:g.39673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1050G>A MANE Select	ENSP00000329468.3:p.Gln350=
ENST00000330889.7:c.1050G>A	ENSP00000329468.3:p.Gln350=
ENST00000470962.1:n.470G>A
ENST00000480980.1:n.484G>A
ENST00000580525.5:c.1068G>A	ENSP00000464121.1:p.Gln356=
ENST00000581285.5:c.966G>A	ENSP00000464155.1:p.Gln322=
ENST00000584828.5:c.402+17G>A
ENST00000585130.5:c.*649G>A	ENSP00000464120.1:n.*649G>A
NM_018404.2:c.1050G>A	NP_060874.1:p.Gln350=
XM_005258008.2:c.1068G>A	XP_005258065.1:p.Gln356=
XM_005258011.2:c.1005G>A	XP_005258068.1:p.Gln335=
XM_006721973.2:c.1051+17G>A	XP_006722036.1:n.1051+17G>A
XM_011524993.1:c.1065G>A	XP_011523295.1:p.Gln355=
XM_011524994.1:c.1047G>A	XP_011523296.1:p.Gln349=
NM_001346712.1:c.1068G>A	NP_001333641.1:p.Gln356=
NM_001346714.1:c.1047G>A	NP_001333643.1:p.Gln349=
NM_001346716.1:c.1033+17G>A	NP_001333645.1:n.1033+17G>A
NR_144488.1:n.1249G>A
XM_024450831.1:c.1050G>A	XP_024306599.1:p.Gln350=
XM_024450832.1:c.1065G>A	XP_024306600.1:p.Gln355=
XM_024450833.1:c.1005G>A	XP_024306601.1:p.Gln335=
XM_024450834.1:c.1051+17G>A	XP_024306602.1:n.1051+17G>A
XM_024450835.1:c.684G>A	XP_024306603.1:p.Gln228=
NM_018404.3:c.1050G>A MANE Select	NP_060874.1:p.Gln350=
NM_001346712.2:c.1068G>A	NP_001333641.1:p.Gln356=
NM_001346714.2:c.1047G>A	NP_001333643.1:p.Gln349=
NM_001346716.2:c.1033+17G>A	NP_001333645.1:n.1033+17G>A
NR_144488.2:n.1040G>A