Canonical Allele Identifier: CA2658189298

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742420-AGGGGCTGGTGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742428_25742440del , CM000664.2:g.25742428_25742440del	GRCh38
NC_000002.11:g.25965297_25965309del , CM000664.1:g.25965297_25965309del	GRCh37
NC_000002.10:g.25818801_25818813del	NCBI36
NG_052995.1:g.141084_141096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3901_3913del	ENSP00000337250.5:p.Thr1301TyrfsTer18
ENST00000435504.9:c.3904_3916del MANE Select	ENSP00000391447.3:p.Thr1302TyrfsTer18
ENST00000336112.8:c.3820_3832del	ENSP00000337250.4:p.Thr1274TyrfsTer18
ENST00000404843.5:c.2353_2365del	ENSP00000383920.1:p.Thr785TyrfsTer18
ENST00000435504.8:c.3904_3916del	ENSP00000391447.3:p.Thr1302TyrfsTer18
NM_018263.4:c.3904_3916del	NP_060733.4:p.Thr1302TyrfsTer18
XM_006712039.2:c.3538_3550del	XP_006712102.1:p.Thr1180TyrfsTer18
XM_006712040.1:c.3124_3136del	XP_006712103.1:p.Thr1042TyrfsTer18
XM_011532950.1:c.3901_3913del	XP_011531252.1:p.Thr1301TyrfsTer18
XM_011532951.1:c.3730_3742del	XP_011531253.1:p.Thr1244TyrfsTer18
NM_018263.5:c.3904_3916del	NP_060733.4:p.Thr1302TyrfsTer18
XM_006712039.3:c.3538_3550del	XP_006712102.1:p.Thr1180TyrfsTer18
XM_006712040.2:c.3124_3136del	XP_006712103.1:p.Thr1042TyrfsTer18
XM_011532950.3:c.3901_3913del	XP_011531252.1:p.Thr1301TyrfsTer18
XM_011532951.2:c.3730_3742del	XP_011531253.1:p.Thr1244TyrfsTer18
XM_017004430.1:c.3124_3136del	XP_016859919.1:p.Thr1042TyrfsTer18
XM_024452974.1:c.4084_4096del	XP_024308742.1:p.Thr1362TyrfsTer18
NM_001369346.1:c.3730_3742del	NP_001356275.1:p.Thr1244TyrfsTer18
NM_001369347.1:c.3124_3136del	NP_001356276.1:p.Thr1042TyrfsTer18
NM_018263.6:c.3904_3916del MANE Select	NP_060733.4:p.Thr1302TyrfsTer18