Canonical Allele Identifier: CA346076153

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742563-T-G
• MyVariant Identifiers: chr2:g.25965432T>G (hg19) ; chr2:g.25742563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742563T>G , CM000664.2:g.25742563T>G	GRCh38
NC_000002.11:g.25965432T>G , CM000664.1:g.25965432T>G	GRCh37
NC_000002.10:g.25818936T>G	NCBI36
NG_052995.1:g.140954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3771A>C	ENSP00000337250.5:p.Glu1257Asp
ENST00000435504.9:c.3774A>C MANE Select	ENSP00000391447.3:p.Glu1258Asp
ENST00000336112.8:c.3690A>C	ENSP00000337250.4:p.Glu1230Asp
ENST00000404843.5:c.2223A>C	ENSP00000383920.1:p.Glu741Asp
ENST00000435504.8:c.3774A>C	ENSP00000391447.3:p.Glu1258Asp
NM_018263.4:c.3774A>C	NP_060733.4:p.Glu1258Asp
XM_006712039.2:c.3408A>C	XP_006712102.1:p.Glu1136Asp
XM_006712040.1:c.2994A>C	XP_006712103.1:p.Glu998Asp
XM_011532950.1:c.3771A>C	XP_011531252.1:p.Glu1257Asp
XM_011532951.1:c.3600A>C	XP_011531253.1:p.Glu1200Asp
NM_018263.5:c.3774A>C	NP_060733.4:p.Glu1258Asp
XM_006712039.3:c.3408A>C	XP_006712102.1:p.Glu1136Asp
XM_006712040.2:c.2994A>C	XP_006712103.1:p.Glu998Asp
XM_011532950.3:c.3771A>C	XP_011531252.1:p.Glu1257Asp
XM_011532951.2:c.3600A>C	XP_011531253.1:p.Glu1200Asp
XM_017004430.1:c.2994A>C	XP_016859919.1:p.Glu998Asp
XM_024452974.1:c.3954A>C	XP_024308742.1:p.Glu1318Asp
NM_001369346.1:c.3600A>C	NP_001356275.1:p.Glu1200Asp
NM_001369347.1:c.2994A>C	NP_001356276.1:p.Glu998Asp
NM_018263.6:c.3774A>C MANE Select	NP_060733.4:p.Glu1258Asp