Canonical Allele Identifier: CA2658189300

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742426-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742428del , CM000664.2:g.25742428del	GRCh38
NC_000002.11:g.25965297del , CM000664.1:g.25965297del	GRCh37
NC_000002.10:g.25818801del	NCBI36
NG_052995.1:g.141090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3907del	ENSP00000337250.5:p.Gln1303SerfsTer20
ENST00000435504.9:c.3910del MANE Select	ENSP00000391447.3:p.Gln1304SerfsTer20
ENST00000336112.8:c.3826del	ENSP00000337250.4:p.Gln1276SerfsTer20
ENST00000404843.5:c.2359del	ENSP00000383920.1:p.Gln787SerfsTer20
ENST00000435504.8:c.3910del	ENSP00000391447.3:p.Gln1304SerfsTer20
NM_018263.4:c.3910del	NP_060733.4:p.Gln1304SerfsTer20
XM_006712039.2:c.3544del	XP_006712102.1:p.Gln1182SerfsTer20
XM_006712040.1:c.3130del	XP_006712103.1:p.Gln1044SerfsTer20
XM_011532950.1:c.3907del	XP_011531252.1:p.Gln1303SerfsTer20
XM_011532951.1:c.3736del	XP_011531253.1:p.Gln1246SerfsTer20
NM_018263.5:c.3910del	NP_060733.4:p.Gln1304SerfsTer20
XM_006712039.3:c.3544del	XP_006712102.1:p.Gln1182SerfsTer20
XM_006712040.2:c.3130del	XP_006712103.1:p.Gln1044SerfsTer20
XM_011532950.3:c.3907del	XP_011531252.1:p.Gln1303SerfsTer20
XM_011532951.2:c.3736del	XP_011531253.1:p.Gln1246SerfsTer20
XM_017004430.1:c.3130del	XP_016859919.1:p.Gln1044SerfsTer20
XM_024452974.1:c.4090del	XP_024308742.1:p.Gln1364SerfsTer20
NM_001369346.1:c.3736del	NP_001356275.1:p.Gln1246SerfsTer20
NM_001369347.1:c.3130del	NP_001356276.1:p.Gln1044SerfsTer20
NM_018263.6:c.3910del MANE Select	NP_060733.4:p.Gln1304SerfsTer20