Canonical Allele Identifier: CA499226323

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956321-C-A
• MyVariant Identifiers: chr17:g.29283339C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956321C>A , CM000679.2:g.30956321C>A	GRCh38
NC_000017.10:g.29283339C>A , CM000679.1:g.29283339C>A	GRCh37
NC_000017.9:g.26307465C>A	NCBI36
NG_051975.1:g.39586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.963C>A MANE Select	ENSP00000329468.3:p.Ile321=
ENST00000330889.7:c.963C>A	ENSP00000329468.3:p.Ile321=
ENST00000470962.1:n.383C>A
ENST00000480980.1:n.397C>A
ENST00000580525.5:c.981C>A	ENSP00000464121.1:p.Ile327=
ENST00000581285.5:c.879C>A	ENSP00000464155.1:p.Ile293=
ENST00000584828.5:c.332C>A
ENST00000584989.1:c.255C>A	ENSP00000462634.1:p.Ile85=
ENST00000585130.5:c.*562C>A	ENSP00000464120.1:n.*562C>A
NM_018404.2:c.963C>A	NP_060874.1:p.Ile321=
XM_005258008.2:c.981C>A	XP_005258065.1:p.Ile327=
XM_005258011.2:c.918C>A	XP_005258068.1:p.Ile306=
XM_006721973.2:c.981C>A	XP_006722036.1:p.Ile327=
XM_011524993.1:c.978C>A	XP_011523295.1:p.Ile326=
XM_011524994.1:c.960C>A	XP_011523296.1:p.Ile320=
NM_001346712.1:c.981C>A	NP_001333641.1:p.Ile327=
NM_001346714.1:c.960C>A	NP_001333643.1:p.Ile320=
NM_001346716.1:c.963C>A	NP_001333645.1:p.Ile321=
NR_144488.1:n.1162C>A
XM_024450831.1:c.963C>A	XP_024306599.1:p.Ile321=
XM_024450832.1:c.978C>A	XP_024306600.1:p.Ile326=
XM_024450833.1:c.918C>A	XP_024306601.1:p.Ile306=
XM_024450834.1:c.981C>A	XP_024306602.1:p.Ile327=
XM_024450835.1:c.597C>A	XP_024306603.1:p.Ile199=
NM_018404.3:c.963C>A MANE Select	NP_060874.1:p.Ile321=
NM_001346712.2:c.981C>A	NP_001333641.1:p.Ile327=
NM_001346714.2:c.960C>A	NP_001333643.1:p.Ile320=
NM_001346716.2:c.963C>A	NP_001333645.1:p.Ile321=
NR_144488.2:n.953C>A