Canonical Allele Identifier: CA1557422

Gene: ASXL2

Linked Data

• dbSNP Id: rs773133219
• ExAC: 2:25965435 A / T
• gnomAD v2: 2-25965435-A-T
• gnomAD v3: 2-25742566-A-T
• gnomAD v4: 2-25742566-A-T
• MyVariant Identifiers: chr2:g.25965435A>T (hg19) ; chr2:g.25742566A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742566A>T , CM000664.2:g.25742566A>T	GRCh38
NC_000002.11:g.25965435A>T , CM000664.1:g.25965435A>T	GRCh37
NC_000002.10:g.25818939A>T	NCBI36
NG_052995.1:g.140951T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3768T>A	ENSP00000337250.5:p.Asp1256Glu
ENST00000435504.9:c.3771T>A MANE Select	ENSP00000391447.3:p.Asp1257Glu
ENST00000336112.8:c.3687T>A	ENSP00000337250.4:p.Asp1229Glu
ENST00000404843.5:c.2220T>A	ENSP00000383920.1:p.Asp740Glu
ENST00000435504.8:c.3771T>A	ENSP00000391447.3:p.Asp1257Glu
NM_018263.4:c.3771T>A	NP_060733.4:p.Asp1257Glu
XM_006712039.2:c.3405T>A	XP_006712102.1:p.Asp1135Glu
XM_006712040.1:c.2991T>A	XP_006712103.1:p.Asp997Glu
XM_011532950.1:c.3768T>A	XP_011531252.1:p.Asp1256Glu
XM_011532951.1:c.3597T>A	XP_011531253.1:p.Asp1199Glu
NM_018263.5:c.3771T>A	NP_060733.4:p.Asp1257Glu
XM_006712039.3:c.3405T>A	XP_006712102.1:p.Asp1135Glu
XM_006712040.2:c.2991T>A	XP_006712103.1:p.Asp997Glu
XM_011532950.3:c.3768T>A	XP_011531252.1:p.Asp1256Glu
XM_011532951.2:c.3597T>A	XP_011531253.1:p.Asp1199Glu
XM_017004430.1:c.2991T>A	XP_016859919.1:p.Asp997Glu
XM_024452974.1:c.3951T>A	XP_024308742.1:p.Asp1317Glu
NM_001369346.1:c.3597T>A	NP_001356275.1:p.Asp1199Glu
NM_001369347.1:c.2991T>A	NP_001356276.1:p.Asp997Glu
NM_018263.6:c.3771T>A MANE Select	NP_060733.4:p.Asp1257Glu