Canonical Allele Identifier: CA2658189302

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742429-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742432del , CM000664.2:g.25742432del	GRCh38
NC_000002.11:g.25965301del , CM000664.1:g.25965301del	GRCh37
NC_000002.10:g.25818805del	NCBI36
NG_052995.1:g.141087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3904del	ENSP00000337250.5:p.His1302ThrfsTer21
ENST00000435504.9:c.3907del MANE Select	ENSP00000391447.3:p.His1303ThrfsTer21
ENST00000336112.8:c.3823del	ENSP00000337250.4:p.His1275ThrfsTer21
ENST00000404843.5:c.2356del	ENSP00000383920.1:p.His786ThrfsTer21
ENST00000435504.8:c.3907del	ENSP00000391447.3:p.His1303ThrfsTer21
NM_018263.4:c.3907del	NP_060733.4:p.His1303ThrfsTer21
XM_006712039.2:c.3541del	XP_006712102.1:p.His1181ThrfsTer21
XM_006712040.1:c.3127del	XP_006712103.1:p.His1043ThrfsTer21
XM_011532950.1:c.3904del	XP_011531252.1:p.His1302ThrfsTer21
XM_011532951.1:c.3733del	XP_011531253.1:p.His1245ThrfsTer21
NM_018263.5:c.3907del	NP_060733.4:p.His1303ThrfsTer21
XM_006712039.3:c.3541del	XP_006712102.1:p.His1181ThrfsTer21
XM_006712040.2:c.3127del	XP_006712103.1:p.His1043ThrfsTer21
XM_011532950.3:c.3904del	XP_011531252.1:p.His1302ThrfsTer21
XM_011532951.2:c.3733del	XP_011531253.1:p.His1245ThrfsTer21
XM_017004430.1:c.3127del	XP_016859919.1:p.His1043ThrfsTer21
XM_024452974.1:c.4087del	XP_024308742.1:p.His1363ThrfsTer21
NM_001369346.1:c.3733del	NP_001356275.1:p.His1245ThrfsTer21
NM_001369347.1:c.3127del	NP_001356276.1:p.His1043ThrfsTer21
NM_018263.6:c.3907del MANE Select	NP_060733.4:p.His1303ThrfsTer21