Canonical Allele Identifier: CA346073715

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2338572
• ClinVar RCV Id: RCV002936267
• gnomAD v4: 2-25742154-C-T
• MyVariant Identifiers: chr2:g.25965023C>T (hg19) ; chr2:g.25742154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742154C>T , CM000664.2:g.25742154C>T	GRCh38
NC_000002.11:g.25965023C>T , CM000664.1:g.25965023C>T	GRCh37
NC_000002.10:g.25818527C>T	NCBI36
NG_052995.1:g.141363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4180G>A	ENSP00000337250.5:p.Gly1394Ser
ENST00000435504.9:c.4183G>A MANE Select	ENSP00000391447.3:p.Gly1395Ser
ENST00000336112.8:c.4099G>A	ENSP00000337250.4:p.Gly1367Ser
ENST00000404843.5:c.2632G>A	ENSP00000383920.1:p.Gly878Ser
ENST00000435504.8:c.4183G>A	ENSP00000391447.3:p.Gly1395Ser
NM_018263.4:c.4183G>A	NP_060733.4:p.Gly1395Ser
XM_006712039.2:c.3817G>A	XP_006712102.1:p.Gly1273Ser
XM_006712040.1:c.3403G>A	XP_006712103.1:p.Gly1135Ser
XM_011532950.1:c.4180G>A	XP_011531252.1:p.Gly1394Ser
XM_011532951.1:c.4009G>A	XP_011531253.1:p.Gly1337Ser
NM_018263.5:c.4183G>A	NP_060733.4:p.Gly1395Ser
XM_006712039.3:c.3817G>A	XP_006712102.1:p.Gly1273Ser
XM_006712040.2:c.3403G>A	XP_006712103.1:p.Gly1135Ser
XM_011532950.3:c.4180G>A	XP_011531252.1:p.Gly1394Ser
XM_011532951.2:c.4009G>A	XP_011531253.1:p.Gly1337Ser
XM_017004430.1:c.3403G>A	XP_016859919.1:p.Gly1135Ser
XM_024452974.1:c.4363G>A	XP_024308742.1:p.Gly1455Ser
NM_001369346.1:c.4009G>A	NP_001356275.1:p.Gly1337Ser
NM_001369347.1:c.3403G>A	NP_001356276.1:p.Gly1135Ser
NM_018263.6:c.4183G>A MANE Select	NP_060733.4:p.Gly1395Ser