Canonical Allele Identifier: CA346073861

Gene: ASXL2

Linked Data

• COSMIC: COSM6033170 ; COSM6033171
• MyVariant Identifiers: chr2:g.25965079C>T (hg19) ; chr2:g.25742210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742210C>T , CM000664.2:g.25742210C>T	GRCh38
NC_000002.11:g.25965079C>T , CM000664.1:g.25965079C>T	GRCh37
NC_000002.10:g.25818583C>T	NCBI36
NG_052995.1:g.141307G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4124G>A	ENSP00000337250.5:p.Ser1375Asn
ENST00000435504.9:c.4127G>A MANE Select	ENSP00000391447.3:p.Ser1376Asn
ENST00000336112.8:c.4043G>A	ENSP00000337250.4:p.Ser1348Asn
ENST00000404843.5:c.2576G>A	ENSP00000383920.1:p.Ser859Asn
ENST00000435504.8:c.4127G>A	ENSP00000391447.3:p.Ser1376Asn
NM_018263.4:c.4127G>A	NP_060733.4:p.Ser1376Asn
XM_006712039.2:c.3761G>A	XP_006712102.1:p.Ser1254Asn
XM_006712040.1:c.3347G>A	XP_006712103.1:p.Ser1116Asn
XM_011532950.1:c.4124G>A	XP_011531252.1:p.Ser1375Asn
XM_011532951.1:c.3953G>A	XP_011531253.1:p.Ser1318Asn
NM_018263.5:c.4127G>A	NP_060733.4:p.Ser1376Asn
XM_006712039.3:c.3761G>A	XP_006712102.1:p.Ser1254Asn
XM_006712040.2:c.3347G>A	XP_006712103.1:p.Ser1116Asn
XM_011532950.3:c.4124G>A	XP_011531252.1:p.Ser1375Asn
XM_011532951.2:c.3953G>A	XP_011531253.1:p.Ser1318Asn
XM_017004430.1:c.3347G>A	XP_016859919.1:p.Ser1116Asn
XM_024452974.1:c.4307G>A	XP_024308742.1:p.Ser1436Asn
NM_001369346.1:c.3953G>A	NP_001356275.1:p.Ser1318Asn
NM_001369347.1:c.3347G>A	NP_001356276.1:p.Ser1116Asn
NM_018263.6:c.4127G>A MANE Select	NP_060733.4:p.Ser1376Asn