Canonical Allele Identifier: CA531761049

Gene: ASXL2

Linked Data

• dbSNP Id: rs1559497173
• gnomAD v2: 2-25964902-C-CGACATTACT
• gnomAD v4: 2-25742033-C-CGACATTACT
• MyVariant Identifiers: chr2:g.25964902_25964903insGACATTACT (hg19) ; chr2:g.25742033_25742034insGACATTACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742035_25742036insCATTACTGA , CM000664.2:g.25742035_25742036insCATTACTGA	GRCh38
NC_000002.11:g.25964904_25964905insCATTACTGA , CM000664.1:g.25964904_25964905insCATTACTGA	GRCh37
NC_000002.10:g.25818408_25818409insCATTACTGA	NCBI36
NG_052995.1:g.141483_141484insAGTAATGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4300_4301insAGTAATGTC	ENSP00000337250.5:p.Arg1434GlnfsTer2
ENST00000435504.9:c.4303_4304insAGTAATGTC MANE Select	ENSP00000391447.3:p.Arg1435GlnfsTer2
ENST00000336112.8:c.4219_4220insAGTAATGTC	ENSP00000337250.4:p.Arg1407GlnfsTer2
ENST00000404843.5:c.2752_2753insAGTAATGTC	ENSP00000383920.1:p.Arg918GlnfsTer2
ENST00000435504.8:c.4303_4304insAGTAATGTC	ENSP00000391447.3:p.Arg1435GlnfsTer2
NM_018263.4:c.4303_4304insAGTAATGTC	NP_060733.4:p.Arg1435GlnfsTer2
XM_006712039.2:c.3937_3938insAGTAATGTC	XP_006712102.1:p.Arg1313GlnfsTer2
XM_006712040.1:c.3523_3524insAGTAATGTC	XP_006712103.1:p.Arg1175GlnfsTer2
XM_011532950.1:c.4300_4301insAGTAATGTC	XP_011531252.1:p.Arg1434GlnfsTer2
XM_011532951.1:c.4129_4130insAGTAATGTC	XP_011531253.1:p.Arg1377GlnfsTer2
NM_018263.5:c.4303_4304insAGTAATGTC	NP_060733.4:p.Arg1435GlnfsTer2
XM_006712039.3:c.3937_3938insAGTAATGTC	XP_006712102.1:p.Arg1313GlnfsTer2
XM_006712040.2:c.3523_3524insAGTAATGTC	XP_006712103.1:p.Arg1175GlnfsTer2
XM_011532950.3:c.4300_4301insAGTAATGTC	XP_011531252.1:p.Arg1434GlnfsTer2
XM_011532951.2:c.4129_4130insAGTAATGTC	XP_011531253.1:p.Arg1377GlnfsTer2
XM_017004430.1:c.3523_3524insAGTAATGTC	XP_016859919.1:p.Arg1175GlnfsTer2
XM_024452974.1:c.4483_4484insAGTAATGTC	XP_024308742.1:p.Arg1495GlnfsTer2
NM_001369346.1:c.4129_4130insAGTAATGTC	NP_001356275.1:p.Arg1377GlnfsTer2
NM_001369347.1:c.3523_3524insAGTAATGTC	NP_001356276.1:p.Arg1175GlnfsTer2
NM_018263.6:c.4303_4304insAGTAATGTC MANE Select	NP_060733.4:p.Arg1435GlnfsTer2