Canonical Allele Identifier: CA346076172

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742565-C-T
• MyVariant Identifiers: chr2:g.25965434C>T (hg19) ; chr2:g.25742565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742565C>T , CM000664.2:g.25742565C>T	GRCh38
NC_000002.11:g.25965434C>T , CM000664.1:g.25965434C>T	GRCh37
NC_000002.10:g.25818938C>T	NCBI36
NG_052995.1:g.140952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3769G>A	ENSP00000337250.5:p.Glu1257Lys
ENST00000435504.9:c.3772G>A MANE Select	ENSP00000391447.3:p.Glu1258Lys
ENST00000336112.8:c.3688G>A	ENSP00000337250.4:p.Glu1230Lys
ENST00000404843.5:c.2221G>A	ENSP00000383920.1:p.Glu741Lys
ENST00000435504.8:c.3772G>A	ENSP00000391447.3:p.Glu1258Lys
NM_018263.4:c.3772G>A	NP_060733.4:p.Glu1258Lys
XM_006712039.2:c.3406G>A	XP_006712102.1:p.Glu1136Lys
XM_006712040.1:c.2992G>A	XP_006712103.1:p.Glu998Lys
XM_011532950.1:c.3769G>A	XP_011531252.1:p.Glu1257Lys
XM_011532951.1:c.3598G>A	XP_011531253.1:p.Glu1200Lys
NM_018263.5:c.3772G>A	NP_060733.4:p.Glu1258Lys
XM_006712039.3:c.3406G>A	XP_006712102.1:p.Glu1136Lys
XM_006712040.2:c.2992G>A	XP_006712103.1:p.Glu998Lys
XM_011532950.3:c.3769G>A	XP_011531252.1:p.Glu1257Lys
XM_011532951.2:c.3598G>A	XP_011531253.1:p.Glu1200Lys
XM_017004430.1:c.2992G>A	XP_016859919.1:p.Glu998Lys
XM_024452974.1:c.3952G>A	XP_024308742.1:p.Glu1318Lys
NM_001369346.1:c.3598G>A	NP_001356275.1:p.Glu1200Lys
NM_001369347.1:c.2992G>A	NP_001356276.1:p.Glu998Lys
NM_018263.6:c.3772G>A MANE Select	NP_060733.4:p.Glu1258Lys