Canonical Allele Identifier: CA425353684

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742473-A-C
• MyVariant Identifiers: chr2:g.25965342A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742473A>C , CM000664.2:g.25742473A>C	GRCh38
NC_000002.11:g.25965342A>C , CM000664.1:g.25965342A>C	GRCh37
NC_000002.10:g.25818846A>C	NCBI36
NG_052995.1:g.141044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3861T>G	ENSP00000337250.5:p.Leu1287=
ENST00000435504.9:c.3864T>G MANE Select	ENSP00000391447.3:p.Leu1288=
ENST00000336112.8:c.3780T>G	ENSP00000337250.4:p.Leu1260=
ENST00000404843.5:c.2313T>G	ENSP00000383920.1:p.Leu771=
ENST00000435504.8:c.3864T>G	ENSP00000391447.3:p.Leu1288=
NM_018263.4:c.3864T>G	NP_060733.4:p.Leu1288=
XM_006712039.2:c.3498T>G	XP_006712102.1:p.Leu1166=
XM_006712040.1:c.3084T>G	XP_006712103.1:p.Leu1028=
XM_011532950.1:c.3861T>G	XP_011531252.1:p.Leu1287=
XM_011532951.1:c.3690T>G	XP_011531253.1:p.Leu1230=
NM_018263.5:c.3864T>G	NP_060733.4:p.Leu1288=
XM_006712039.3:c.3498T>G	XP_006712102.1:p.Leu1166=
XM_006712040.2:c.3084T>G	XP_006712103.1:p.Leu1028=
XM_011532950.3:c.3861T>G	XP_011531252.1:p.Leu1287=
XM_011532951.2:c.3690T>G	XP_011531253.1:p.Leu1230=
XM_017004430.1:c.3084T>G	XP_016859919.1:p.Leu1028=
XM_024452974.1:c.4044T>G	XP_024308742.1:p.Leu1348=
NM_001369346.1:c.3690T>G	NP_001356275.1:p.Leu1230=
NM_001369347.1:c.3084T>G	NP_001356276.1:p.Leu1028=
NM_018263.6:c.3864T>G MANE Select	NP_060733.4:p.Leu1288=