Canonical Allele Identifier: CA2658189293

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742204-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742206dup , CM000664.2:g.25742206dup	GRCh38
NC_000002.11:g.25965075dup , CM000664.1:g.25965075dup	GRCh37
NC_000002.10:g.25818579dup	NCBI36
NG_052995.1:g.141312dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4129dup	ENSP00000337250.5:p.His1377ProfsTer?
ENST00000435504.9:c.4132dup MANE Select	ENSP00000391447.3:p.His1378ProfsTer?
ENST00000336112.8:c.4048dup	ENSP00000337250.4:p.His1350ProfsTer?
ENST00000404843.5:c.2581dup	ENSP00000383920.1:p.His861ProfsTer?
ENST00000435504.8:c.4132dup	ENSP00000391447.3:p.His1378ProfsTer?
NM_018263.4:c.4132dup	NP_060733.4:p.His1378ProfsTer?
XM_006712039.2:c.3766dup	XP_006712102.1:p.His1256ProfsTer?
XM_006712040.1:c.3352dup	XP_006712103.1:p.His1118ProfsTer?
XM_011532950.1:c.4129dup	XP_011531252.1:p.His1377ProfsTer?
XM_011532951.1:c.3958dup	XP_011531253.1:p.His1320ProfsTer?
NM_018263.5:c.4132dup	NP_060733.4:p.His1378ProfsTer?
XM_006712039.3:c.3766dup	XP_006712102.1:p.His1256ProfsTer?
XM_006712040.2:c.3352dup	XP_006712103.1:p.His1118ProfsTer?
XM_011532950.3:c.4129dup	XP_011531252.1:p.His1377ProfsTer?
XM_011532951.2:c.3958dup	XP_011531253.1:p.His1320ProfsTer?
XM_017004430.1:c.3352dup	XP_016859919.1:p.His1118ProfsTer?
XM_024452974.1:c.4312dup	XP_024308742.1:p.His1438ProfsTer?
NM_001369346.1:c.3958dup	NP_001356275.1:p.His1320ProfsTer?
NM_001369347.1:c.3352dup	NP_001356276.1:p.His1118ProfsTer?
NM_018263.6:c.4132dup MANE Select	NP_060733.4:p.His1378ProfsTer?