Canonical Allele Identifier: CA346075992

Gene: ASXL2

Linked Data

• dbSNP Id: rs1351764588
• gnomAD v2: 2-25965405-C-G
• MyVariant Identifiers: chr2:g.25965405C>G (hg19) ; chr2:g.25742536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742536C>G , CM000664.2:g.25742536C>G	GRCh38
NC_000002.11:g.25965405C>G , CM000664.1:g.25965405C>G	GRCh37
NC_000002.10:g.25818909C>G	NCBI36
NG_052995.1:g.140981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3798G>C	ENSP00000337250.5:p.Gln1266His
ENST00000435504.9:c.3801G>C MANE Select	ENSP00000391447.3:p.Gln1267His
ENST00000336112.8:c.3717G>C	ENSP00000337250.4:p.Gln1239His
ENST00000404843.5:c.2250G>C	ENSP00000383920.1:p.Gln750His
ENST00000435504.8:c.3801G>C	ENSP00000391447.3:p.Gln1267His
NM_018263.4:c.3801G>C	NP_060733.4:p.Gln1267His
XM_006712039.2:c.3435G>C	XP_006712102.1:p.Gln1145His
XM_006712040.1:c.3021G>C	XP_006712103.1:p.Gln1007His
XM_011532950.1:c.3798G>C	XP_011531252.1:p.Gln1266His
XM_011532951.1:c.3627G>C	XP_011531253.1:p.Gln1209His
NM_018263.5:c.3801G>C	NP_060733.4:p.Gln1267His
XM_006712039.3:c.3435G>C	XP_006712102.1:p.Gln1145His
XM_006712040.2:c.3021G>C	XP_006712103.1:p.Gln1007His
XM_011532950.3:c.3798G>C	XP_011531252.1:p.Gln1266His
XM_011532951.2:c.3627G>C	XP_011531253.1:p.Gln1209His
XM_017004430.1:c.3021G>C	XP_016859919.1:p.Gln1007His
XM_024452974.1:c.3981G>C	XP_024308742.1:p.Gln1327His
NM_001369346.1:c.3627G>C	NP_001356275.1:p.Gln1209His
NM_001369347.1:c.3021G>C	NP_001356276.1:p.Gln1007His
NM_018263.6:c.3801G>C MANE Select	NP_060733.4:p.Gln1267His