Canonical Allele Identifier: CA346073548

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742081-T-C
• MyVariant Identifiers: chr2:g.25964950T>C (hg19) ; chr2:g.25742081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742081T>C , CM000664.2:g.25742081T>C	GRCh38
NC_000002.11:g.25964950T>C , CM000664.1:g.25964950T>C	GRCh37
NC_000002.10:g.25818454T>C	NCBI36
NG_052995.1:g.141436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4253A>G	ENSP00000337250.5:p.Asp1418Gly
ENST00000435504.9:c.4256A>G MANE Select	ENSP00000391447.3:p.Asp1419Gly
ENST00000336112.8:c.4172A>G	ENSP00000337250.4:p.Asp1391Gly
ENST00000404843.5:c.2705A>G	ENSP00000383920.1:p.Asp902Gly
ENST00000435504.8:c.4256A>G	ENSP00000391447.3:p.Asp1419Gly
NM_018263.4:c.4256A>G	NP_060733.4:p.Asp1419Gly
XM_006712039.2:c.3890A>G	XP_006712102.1:p.Asp1297Gly
XM_006712040.1:c.3476A>G	XP_006712103.1:p.Asp1159Gly
XM_011532950.1:c.4253A>G	XP_011531252.1:p.Asp1418Gly
XM_011532951.1:c.4082A>G	XP_011531253.1:p.Asp1361Gly
NM_018263.5:c.4256A>G	NP_060733.4:p.Asp1419Gly
XM_006712039.3:c.3890A>G	XP_006712102.1:p.Asp1297Gly
XM_006712040.2:c.3476A>G	XP_006712103.1:p.Asp1159Gly
XM_011532950.3:c.4253A>G	XP_011531252.1:p.Asp1418Gly
XM_011532951.2:c.4082A>G	XP_011531253.1:p.Asp1361Gly
XM_017004430.1:c.3476A>G	XP_016859919.1:p.Asp1159Gly
XM_024452974.1:c.4436A>G	XP_024308742.1:p.Asp1479Gly
NM_001369346.1:c.4082A>G	NP_001356275.1:p.Asp1361Gly
NM_001369347.1:c.3476A>G	NP_001356276.1:p.Asp1159Gly
NM_018263.6:c.4256A>G MANE Select	NP_060733.4:p.Asp1419Gly