Canonical Allele Identifier: CA346074701

Gene: ASXL2

Linked Data

• COSMIC: COSM5634532 ; COSM5634533
• MyVariant Identifiers: chr2:g.25965209C>A (hg19) ; chr2:g.25742340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742340C>A , CM000664.2:g.25742340C>A	GRCh38
NC_000002.11:g.25965209C>A , CM000664.1:g.25965209C>A	GRCh37
NC_000002.10:g.25818713C>A	NCBI36
NG_052995.1:g.141177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3994G>T	ENSP00000337250.5:p.Val1332Phe
ENST00000435504.9:c.3997G>T MANE Select	ENSP00000391447.3:p.Val1333Phe
ENST00000336112.8:c.3913G>T	ENSP00000337250.4:p.Val1305Phe
ENST00000404843.5:c.2446G>T	ENSP00000383920.1:p.Val816Phe
ENST00000435504.8:c.3997G>T	ENSP00000391447.3:p.Val1333Phe
NM_018263.4:c.3997G>T	NP_060733.4:p.Val1333Phe
XM_006712039.2:c.3631G>T	XP_006712102.1:p.Val1211Phe
XM_006712040.1:c.3217G>T	XP_006712103.1:p.Val1073Phe
XM_011532950.1:c.3994G>T	XP_011531252.1:p.Val1332Phe
XM_011532951.1:c.3823G>T	XP_011531253.1:p.Val1275Phe
NM_018263.5:c.3997G>T	NP_060733.4:p.Val1333Phe
XM_006712039.3:c.3631G>T	XP_006712102.1:p.Val1211Phe
XM_006712040.2:c.3217G>T	XP_006712103.1:p.Val1073Phe
XM_011532950.3:c.3994G>T	XP_011531252.1:p.Val1332Phe
XM_011532951.2:c.3823G>T	XP_011531253.1:p.Val1275Phe
XM_017004430.1:c.3217G>T	XP_016859919.1:p.Val1073Phe
XM_024452974.1:c.4177G>T	XP_024308742.1:p.Val1393Phe
NM_001369346.1:c.3823G>T	NP_001356275.1:p.Val1275Phe
NM_001369347.1:c.3217G>T	NP_001356276.1:p.Val1073Phe
NM_018263.6:c.3997G>T MANE Select	NP_060733.4:p.Val1333Phe