Canonical Allele Identifier: CA531761029

Gene: ASXL2

Linked Data

• dbSNP Id: rs1237397598
• gnomAD v2: 2-25965223-C-CT
• gnomAD v4: 2-25742354-C-CT
• MyVariant Identifiers: chr2:g.25965223_25965224insT (hg19) ; chr2:g.25742354_25742355insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742355dup , CM000664.2:g.25742355dup	GRCh38
NC_000002.11:g.25965224dup , CM000664.1:g.25965224dup	GRCh37
NC_000002.10:g.25818728dup	NCBI36
NG_052995.1:g.141162dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3979dup	ENSP00000337250.5:p.Arg1327LysfsTer11
ENST00000435504.9:c.3982dup MANE Select	ENSP00000391447.3:p.Arg1328LysfsTer11
ENST00000336112.8:c.3898dup	ENSP00000337250.4:p.Arg1300LysfsTer11
ENST00000404843.5:c.2431dup	ENSP00000383920.1:p.Arg811LysfsTer11
ENST00000435504.8:c.3982dup	ENSP00000391447.3:p.Arg1328LysfsTer11
NM_018263.4:c.3982dup	NP_060733.4:p.Arg1328LysfsTer11
XM_006712039.2:c.3616dup	XP_006712102.1:p.Arg1206LysfsTer11
XM_006712040.1:c.3202dup	XP_006712103.1:p.Arg1068LysfsTer11
XM_011532950.1:c.3979dup	XP_011531252.1:p.Arg1327LysfsTer11
XM_011532951.1:c.3808dup	XP_011531253.1:p.Arg1270LysfsTer11
NM_018263.5:c.3982dup	NP_060733.4:p.Arg1328LysfsTer11
XM_006712039.3:c.3616dup	XP_006712102.1:p.Arg1206LysfsTer11
XM_006712040.2:c.3202dup	XP_006712103.1:p.Arg1068LysfsTer11
XM_011532950.3:c.3979dup	XP_011531252.1:p.Arg1327LysfsTer11
XM_011532951.2:c.3808dup	XP_011531253.1:p.Arg1270LysfsTer11
XM_017004430.1:c.3202dup	XP_016859919.1:p.Arg1068LysfsTer11
XM_024452974.1:c.4162dup	XP_024308742.1:p.Arg1388LysfsTer11
NM_001369346.1:c.3808dup	NP_001356275.1:p.Arg1270LysfsTer11
NM_001369347.1:c.3202dup	NP_001356276.1:p.Arg1068LysfsTer11
NM_018263.6:c.3982dup MANE Select	NP_060733.4:p.Arg1328LysfsTer11