Canonical Allele Identifier: CA1557424

Gene: ASXL2

Linked Data

• dbSNP Id: rs762887744
• ExAC: 2:25965436 T / A
• gnomAD v2: 2-25965436-T-A
• MyVariant Identifiers: chr2:g.25965436T>A (hg19) ; chr2:g.25742567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742567T>A , CM000664.2:g.25742567T>A	GRCh38
NC_000002.11:g.25965436T>A , CM000664.1:g.25965436T>A	GRCh37
NC_000002.10:g.25818940T>A	NCBI36
NG_052995.1:g.140950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3767A>T	ENSP00000337250.5:p.Asp1256Val
ENST00000435504.9:c.3770A>T MANE Select	ENSP00000391447.3:p.Asp1257Val
ENST00000336112.8:c.3686A>T	ENSP00000337250.4:p.Asp1229Val
ENST00000404843.5:c.2219A>T	ENSP00000383920.1:p.Asp740Val
ENST00000435504.8:c.3770A>T	ENSP00000391447.3:p.Asp1257Val
NM_018263.4:c.3770A>T	NP_060733.4:p.Asp1257Val
XM_006712039.2:c.3404A>T	XP_006712102.1:p.Asp1135Val
XM_006712040.1:c.2990A>T	XP_006712103.1:p.Asp997Val
XM_011532950.1:c.3767A>T	XP_011531252.1:p.Asp1256Val
XM_011532951.1:c.3596A>T	XP_011531253.1:p.Asp1199Val
NM_018263.5:c.3770A>T	NP_060733.4:p.Asp1257Val
XM_006712039.3:c.3404A>T	XP_006712102.1:p.Asp1135Val
XM_006712040.2:c.2990A>T	XP_006712103.1:p.Asp997Val
XM_011532950.3:c.3767A>T	XP_011531252.1:p.Asp1256Val
XM_011532951.2:c.3596A>T	XP_011531253.1:p.Asp1199Val
XM_017004430.1:c.2990A>T	XP_016859919.1:p.Asp997Val
XM_024452974.1:c.3950A>T	XP_024308742.1:p.Asp1317Val
NM_001369346.1:c.3596A>T	NP_001356275.1:p.Asp1199Val
NM_001369347.1:c.2990A>T	NP_001356276.1:p.Asp997Val
NM_018263.6:c.3770A>T MANE Select	NP_060733.4:p.Asp1257Val