Canonical Allele Identifier: CA346074457

Gene: ASXL2

Linked Data

• MyVariant Identifiers: chr2:g.25965173C>A (hg19) ; chr2:g.25742304C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742304C>A , CM000664.2:g.25742304C>A	GRCh38
NC_000002.11:g.25965173C>A , CM000664.1:g.25965173C>A	GRCh37
NC_000002.10:g.25818677C>A	NCBI36
NG_052995.1:g.141213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4030G>T	ENSP00000337250.5:p.Val1344Leu
ENST00000435504.9:c.4033G>T MANE Select	ENSP00000391447.3:p.Val1345Leu
ENST00000336112.8:c.3949G>T	ENSP00000337250.4:p.Val1317Leu
ENST00000404843.5:c.2482G>T	ENSP00000383920.1:p.Val828Leu
ENST00000435504.8:c.4033G>T	ENSP00000391447.3:p.Val1345Leu
NM_018263.4:c.4033G>T	NP_060733.4:p.Val1345Leu
XM_006712039.2:c.3667G>T	XP_006712102.1:p.Val1223Leu
XM_006712040.1:c.3253G>T	XP_006712103.1:p.Val1085Leu
XM_011532950.1:c.4030G>T	XP_011531252.1:p.Val1344Leu
XM_011532951.1:c.3859G>T	XP_011531253.1:p.Val1287Leu
NM_018263.5:c.4033G>T	NP_060733.4:p.Val1345Leu
XM_006712039.3:c.3667G>T	XP_006712102.1:p.Val1223Leu
XM_006712040.2:c.3253G>T	XP_006712103.1:p.Val1085Leu
XM_011532950.3:c.4030G>T	XP_011531252.1:p.Val1344Leu
XM_011532951.2:c.3859G>T	XP_011531253.1:p.Val1287Leu
XM_017004430.1:c.3253G>T	XP_016859919.1:p.Val1085Leu
XM_024452974.1:c.4213G>T	XP_024308742.1:p.Val1405Leu
NM_001369346.1:c.3859G>T	NP_001356275.1:p.Val1287Leu
NM_001369347.1:c.3253G>T	NP_001356276.1:p.Val1085Leu
NM_018263.6:c.4033G>T MANE Select	NP_060733.4:p.Val1345Leu