Canonical Allele Identifier: CA1557332

Gene: ASXL2

Linked Data

• dbSNP Id: rs773069400
• ExAC: 2:25964982 G / T
• gnomAD v2: 2-25964982-G-T
• gnomAD v4: 2-25742113-G-T
• MyVariant Identifiers: chr2:g.25964982G>T (hg19) ; chr2:g.25742113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742113G>T , CM000664.2:g.25742113G>T	GRCh38
NC_000002.11:g.25964982G>T , CM000664.1:g.25964982G>T	GRCh37
NC_000002.10:g.25818486G>T	NCBI36
NG_052995.1:g.141404C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4221C>A	ENSP00000337250.5:p.Ile1407=
ENST00000435504.9:c.4224C>A MANE Select	ENSP00000391447.3:p.Ile1408=
ENST00000336112.8:c.4140C>A	ENSP00000337250.4:p.Ile1380=
ENST00000404843.5:c.2673C>A	ENSP00000383920.1:p.Ile891=
ENST00000435504.8:c.4224C>A	ENSP00000391447.3:p.Ile1408=
NM_018263.4:c.4224C>A	NP_060733.4:p.Ile1408=
XM_006712039.2:c.3858C>A	XP_006712102.1:p.Ile1286=
XM_006712040.1:c.3444C>A	XP_006712103.1:p.Ile1148=
XM_011532950.1:c.4221C>A	XP_011531252.1:p.Ile1407=
XM_011532951.1:c.4050C>A	XP_011531253.1:p.Ile1350=
NM_018263.5:c.4224C>A	NP_060733.4:p.Ile1408=
XM_006712039.3:c.3858C>A	XP_006712102.1:p.Ile1286=
XM_006712040.2:c.3444C>A	XP_006712103.1:p.Ile1148=
XM_011532950.3:c.4221C>A	XP_011531252.1:p.Ile1407=
XM_011532951.2:c.4050C>A	XP_011531253.1:p.Ile1350=
XM_017004430.1:c.3444C>A	XP_016859919.1:p.Ile1148=
XM_024452974.1:c.4404C>A	XP_024308742.1:p.Ile1468=
NM_001369346.1:c.4050C>A	NP_001356275.1:p.Ile1350=
NM_001369347.1:c.3444C>A	NP_001356276.1:p.Ile1148=
NM_018263.6:c.4224C>A MANE Select	NP_060733.4:p.Ile1408=