Canonical Allele Identifier: CA346073541

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2446307
• ClinVar RCV Id: RCV003156661
• gnomAD v4: 2-25742078-T-C
• MyVariant Identifiers: chr2:g.25964947T>C (hg19) ; chr2:g.25742078T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742078T>C , CM000664.2:g.25742078T>C	GRCh38
NC_000002.11:g.25964947T>C , CM000664.1:g.25964947T>C	GRCh37
NC_000002.10:g.25818451T>C	NCBI36
NG_052995.1:g.141439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4256A>G	ENSP00000337250.5:p.Asp1419Gly
ENST00000435504.9:c.4259A>G MANE Select	ENSP00000391447.3:p.Asp1420Gly
ENST00000336112.8:c.4175A>G	ENSP00000337250.4:p.Asp1392Gly
ENST00000404843.5:c.2708A>G	ENSP00000383920.1:p.Asp903Gly
ENST00000435504.8:c.4259A>G	ENSP00000391447.3:p.Asp1420Gly
NM_018263.4:c.4259A>G	NP_060733.4:p.Asp1420Gly
XM_006712039.2:c.3893A>G	XP_006712102.1:p.Asp1298Gly
XM_006712040.1:c.3479A>G	XP_006712103.1:p.Asp1160Gly
XM_011532950.1:c.4256A>G	XP_011531252.1:p.Asp1419Gly
XM_011532951.1:c.4085A>G	XP_011531253.1:p.Asp1362Gly
NM_018263.5:c.4259A>G	NP_060733.4:p.Asp1420Gly
XM_006712039.3:c.3893A>G	XP_006712102.1:p.Asp1298Gly
XM_006712040.2:c.3479A>G	XP_006712103.1:p.Asp1160Gly
XM_011532950.3:c.4256A>G	XP_011531252.1:p.Asp1419Gly
XM_011532951.2:c.4085A>G	XP_011531253.1:p.Asp1362Gly
XM_017004430.1:c.3479A>G	XP_016859919.1:p.Asp1160Gly
XM_024452974.1:c.4439A>G	XP_024308742.1:p.Asp1480Gly
NM_001369346.1:c.4085A>G	NP_001356275.1:p.Asp1362Gly
NM_001369347.1:c.3479A>G	NP_001356276.1:p.Asp1160Gly
NM_018263.6:c.4259A>G MANE Select	NP_060733.4:p.Asp1420Gly