Canonical Allele Identifier: CA346075233

Gene: ASXL2

Linked Data

• MyVariant Identifiers: chr2:g.25965286A>T (hg19) ; chr2:g.25742417A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742417A>T , CM000664.2:g.25742417A>T	GRCh38
NC_000002.11:g.25965286A>T , CM000664.1:g.25965286A>T	GRCh37
NC_000002.10:g.25818790A>T	NCBI36
NG_052995.1:g.141100T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3917T>A	ENSP00000337250.5:p.Leu1306His
ENST00000435504.9:c.3920T>A MANE Select	ENSP00000391447.3:p.Leu1307His
ENST00000336112.8:c.3836T>A	ENSP00000337250.4:p.Leu1279His
ENST00000404843.5:c.2369T>A	ENSP00000383920.1:p.Leu790His
ENST00000435504.8:c.3920T>A	ENSP00000391447.3:p.Leu1307His
NM_018263.4:c.3920T>A	NP_060733.4:p.Leu1307His
XM_006712039.2:c.3554T>A	XP_006712102.1:p.Leu1185His
XM_006712040.1:c.3140T>A	XP_006712103.1:p.Leu1047His
XM_011532950.1:c.3917T>A	XP_011531252.1:p.Leu1306His
XM_011532951.1:c.3746T>A	XP_011531253.1:p.Leu1249His
NM_018263.5:c.3920T>A	NP_060733.4:p.Leu1307His
XM_006712039.3:c.3554T>A	XP_006712102.1:p.Leu1185His
XM_006712040.2:c.3140T>A	XP_006712103.1:p.Leu1047His
XM_011532950.3:c.3917T>A	XP_011531252.1:p.Leu1306His
XM_011532951.2:c.3746T>A	XP_011531253.1:p.Leu1249His
XM_017004430.1:c.3140T>A	XP_016859919.1:p.Leu1047His
XM_024452974.1:c.4100T>A	XP_024308742.1:p.Leu1367His
NM_001369346.1:c.3746T>A	NP_001356275.1:p.Leu1249His
NM_001369347.1:c.3140T>A	NP_001356276.1:p.Leu1047His
NM_018263.6:c.3920T>A MANE Select	NP_060733.4:p.Leu1307His