Canonical Allele Identifier: CA398978972

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956250-G-T
• MyVariant Identifiers: chr17:g.29283268G>T (hg19) ; chr17:g.30956250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956250G>T , CM000679.2:g.30956250G>T	GRCh38
NC_000017.10:g.29283268G>T , CM000679.1:g.29283268G>T	GRCh37
NC_000017.9:g.26307394G>T	NCBI36
NG_051975.1:g.39515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.892G>T MANE Select	ENSP00000329468.3:p.Glu298Ter
ENST00000330889.7:c.892G>T	ENSP00000329468.3:p.Glu298Ter
ENST00000470962.1:n.312G>T
ENST00000480980.1:n.326G>T
ENST00000580525.5:c.910G>T	ENSP00000464121.1:p.Glu304Ter
ENST00000581285.5:c.808G>T	ENSP00000464155.1:p.Glu270Ter
ENST00000584828.5:c.261G>T
ENST00000584989.1:c.184G>T	ENSP00000462634.1:p.Glu62Ter
ENST00000585130.5:c.*491G>T	ENSP00000464120.1:n.*491G>T
NM_018404.2:c.892G>T	NP_060874.1:p.Glu298Ter
XM_005258008.2:c.910G>T	XP_005258065.1:p.Glu304Ter
XM_005258011.2:c.847G>T	XP_005258068.1:p.Glu283Ter
XM_006721973.2:c.910G>T	XP_006722036.1:p.Glu304Ter
XM_011524993.1:c.907G>T	XP_011523295.1:p.Glu303Ter
XM_011524994.1:c.889G>T	XP_011523296.1:p.Glu297Ter
NM_001346712.1:c.910G>T	NP_001333641.1:p.Glu304Ter
NM_001346714.1:c.889G>T	NP_001333643.1:p.Glu297Ter
NM_001346716.1:c.892G>T	NP_001333645.1:p.Glu298Ter
NR_144488.1:n.1091G>T
XM_024450831.1:c.892G>T	XP_024306599.1:p.Glu298Ter
XM_024450832.1:c.907G>T	XP_024306600.1:p.Glu303Ter
XM_024450833.1:c.847G>T	XP_024306601.1:p.Glu283Ter
XM_024450834.1:c.910G>T	XP_024306602.1:p.Glu304Ter
XM_024450835.1:c.526G>T	XP_024306603.1:p.Glu176Ter
NM_018404.3:c.892G>T MANE Select	NP_060874.1:p.Glu298Ter
NM_001346712.2:c.910G>T	NP_001333641.1:p.Glu304Ter
NM_001346714.2:c.889G>T	NP_001333643.1:p.Glu297Ter
NM_001346716.2:c.892G>T	NP_001333645.1:p.Glu298Ter
NR_144488.2:n.882G>T