Canonical Allele Identifier: CA8485041

Gene: ADAP2

Linked Data

• dbSNP Id: rs775080689
• ExAC: 17:29283260 A / C
• gnomAD v2: 17-29283260-A-C
• gnomAD v4: 17-30956242-A-C
• MyVariant Identifiers: chr17:g.29283260A>C (hg19) ; chr17:g.30956242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956242A>C , CM000679.2:g.30956242A>C	GRCh38
NC_000017.10:g.29283260A>C , CM000679.1:g.29283260A>C	GRCh37
NC_000017.9:g.26307386A>C	NCBI36
NG_051975.1:g.39507A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.884A>C MANE Select	ENSP00000329468.3:p.Asp295Ala
ENST00000330889.7:c.884A>C	ENSP00000329468.3:p.Asp295Ala
ENST00000470962.1:n.304A>C
ENST00000480980.1:n.318A>C
ENST00000580525.5:c.902A>C	ENSP00000464121.1:p.Asp301Ala
ENST00000581285.5:c.800A>C	ENSP00000464155.1:p.Asp267Ala
ENST00000584828.5:c.253A>C
ENST00000584989.1:c.176A>C	ENSP00000462634.1:p.Asp59Ala
ENST00000585130.5:c.*483A>C	ENSP00000464120.1:n.*483A>C
NM_018404.2:c.884A>C	NP_060874.1:p.Asp295Ala
XM_005258008.2:c.902A>C	XP_005258065.1:p.Asp301Ala
XM_005258011.2:c.839A>C	XP_005258068.1:p.Asp280Ala
XM_006721973.2:c.902A>C	XP_006722036.1:p.Asp301Ala
XM_011524993.1:c.899A>C	XP_011523295.1:p.Asp300Ala
XM_011524994.1:c.881A>C	XP_011523296.1:p.Asp294Ala
NM_001346712.1:c.902A>C	NP_001333641.1:p.Asp301Ala
NM_001346714.1:c.881A>C	NP_001333643.1:p.Asp294Ala
NM_001346716.1:c.884A>C	NP_001333645.1:p.Asp295Ala
NR_144488.1:n.1083A>C
XM_024450831.1:c.884A>C	XP_024306599.1:p.Asp295Ala
XM_024450832.1:c.899A>C	XP_024306600.1:p.Asp300Ala
XM_024450833.1:c.839A>C	XP_024306601.1:p.Asp280Ala
XM_024450834.1:c.902A>C	XP_024306602.1:p.Asp301Ala
XM_024450835.1:c.518A>C	XP_024306603.1:p.Asp173Ala
NM_018404.3:c.884A>C MANE Select	NP_060874.1:p.Asp295Ala
NM_001346712.2:c.902A>C	NP_001333641.1:p.Asp301Ala
NM_001346714.2:c.881A>C	NP_001333643.1:p.Asp294Ala
NM_001346716.2:c.884A>C	NP_001333645.1:p.Asp295Ala
NR_144488.2:n.874A>C