Canonical Allele Identifier: CA346073788

Gene: ASXL2

Linked Data

• MyVariant Identifiers: chr2:g.25965058G>C (hg19) ; chr2:g.25742189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742189G>C , CM000664.2:g.25742189G>C	GRCh38
NC_000002.11:g.25965058G>C , CM000664.1:g.25965058G>C	GRCh37
NC_000002.10:g.25818562G>C	NCBI36
NG_052995.1:g.141328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4145C>G	ENSP00000337250.5:p.Pro1382Arg
ENST00000435504.9:c.4148C>G MANE Select	ENSP00000391447.3:p.Pro1383Arg
ENST00000336112.8:c.4064C>G	ENSP00000337250.4:p.Pro1355Arg
ENST00000404843.5:c.2597C>G	ENSP00000383920.1:p.Pro866Arg
ENST00000435504.8:c.4148C>G	ENSP00000391447.3:p.Pro1383Arg
NM_018263.4:c.4148C>G	NP_060733.4:p.Pro1383Arg
XM_006712039.2:c.3782C>G	XP_006712102.1:p.Pro1261Arg
XM_006712040.1:c.3368C>G	XP_006712103.1:p.Pro1123Arg
XM_011532950.1:c.4145C>G	XP_011531252.1:p.Pro1382Arg
XM_011532951.1:c.3974C>G	XP_011531253.1:p.Pro1325Arg
NM_018263.5:c.4148C>G	NP_060733.4:p.Pro1383Arg
XM_006712039.3:c.3782C>G	XP_006712102.1:p.Pro1261Arg
XM_006712040.2:c.3368C>G	XP_006712103.1:p.Pro1123Arg
XM_011532950.3:c.4145C>G	XP_011531252.1:p.Pro1382Arg
XM_011532951.2:c.3974C>G	XP_011531253.1:p.Pro1325Arg
XM_017004430.1:c.3368C>G	XP_016859919.1:p.Pro1123Arg
XM_024452974.1:c.4328C>G	XP_024308742.1:p.Pro1443Arg
NM_001369346.1:c.3974C>G	NP_001356275.1:p.Pro1325Arg
NM_001369347.1:c.3368C>G	NP_001356276.1:p.Pro1123Arg
NM_018263.6:c.4148C>G MANE Select	NP_060733.4:p.Pro1383Arg