Canonical Allele Identifier: CA346075086

Gene: ASXL2

Linked Data

• dbSNP Id: rs1217042712
• MyVariant Identifiers: chr2:g.25965260A>T (hg19) ; chr2:g.25742391A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742391A>T , CM000664.2:g.25742391A>T	GRCh38
NC_000002.11:g.25965260A>T , CM000664.1:g.25965260A>T	GRCh37
NC_000002.10:g.25818764A>T	NCBI36
NG_052995.1:g.141126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3943T>A	ENSP00000337250.5:p.Leu1315Met
ENST00000435504.9:c.3946T>A MANE Select	ENSP00000391447.3:p.Leu1316Met
ENST00000336112.8:c.3862T>A	ENSP00000337250.4:p.Leu1288Met
ENST00000404843.5:c.2395T>A	ENSP00000383920.1:p.Leu799Met
ENST00000435504.8:c.3946T>A	ENSP00000391447.3:p.Leu1316Met
NM_018263.4:c.3946T>A	NP_060733.4:p.Leu1316Met
XM_006712039.2:c.3580T>A	XP_006712102.1:p.Leu1194Met
XM_006712040.1:c.3166T>A	XP_006712103.1:p.Leu1056Met
XM_011532950.1:c.3943T>A	XP_011531252.1:p.Leu1315Met
XM_011532951.1:c.3772T>A	XP_011531253.1:p.Leu1258Met
NM_018263.5:c.3946T>A	NP_060733.4:p.Leu1316Met
XM_006712039.3:c.3580T>A	XP_006712102.1:p.Leu1194Met
XM_006712040.2:c.3166T>A	XP_006712103.1:p.Leu1056Met
XM_011532950.3:c.3943T>A	XP_011531252.1:p.Leu1315Met
XM_011532951.2:c.3772T>A	XP_011531253.1:p.Leu1258Met
XM_017004430.1:c.3166T>A	XP_016859919.1:p.Leu1056Met
XM_024452974.1:c.4126T>A	XP_024308742.1:p.Leu1376Met
NM_001369346.1:c.3772T>A	NP_001356275.1:p.Leu1258Met
NM_001369347.1:c.3166T>A	NP_001356276.1:p.Leu1056Met
NM_018263.6:c.3946T>A MANE Select	NP_060733.4:p.Leu1316Met