Canonical Allele Identifier: CA346075197

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742408-G-T
• MyVariant Identifiers: chr2:g.25965277G>T (hg19) ; chr2:g.25742408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742408G>T , CM000664.2:g.25742408G>T	GRCh38
NC_000002.11:g.25965277G>T , CM000664.1:g.25965277G>T	GRCh37
NC_000002.10:g.25818781G>T	NCBI36
NG_052995.1:g.141109C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3926C>A	ENSP00000337250.5:p.Pro1309His
ENST00000435504.9:c.3929C>A MANE Select	ENSP00000391447.3:p.Pro1310His
ENST00000336112.8:c.3845C>A	ENSP00000337250.4:p.Pro1282His
ENST00000404843.5:c.2378C>A	ENSP00000383920.1:p.Pro793His
ENST00000435504.8:c.3929C>A	ENSP00000391447.3:p.Pro1310His
NM_018263.4:c.3929C>A	NP_060733.4:p.Pro1310His
XM_006712039.2:c.3563C>A	XP_006712102.1:p.Pro1188His
XM_006712040.1:c.3149C>A	XP_006712103.1:p.Pro1050His
XM_011532950.1:c.3926C>A	XP_011531252.1:p.Pro1309His
XM_011532951.1:c.3755C>A	XP_011531253.1:p.Pro1252His
NM_018263.5:c.3929C>A	NP_060733.4:p.Pro1310His
XM_006712039.3:c.3563C>A	XP_006712102.1:p.Pro1188His
XM_006712040.2:c.3149C>A	XP_006712103.1:p.Pro1050His
XM_011532950.3:c.3926C>A	XP_011531252.1:p.Pro1309His
XM_011532951.2:c.3755C>A	XP_011531253.1:p.Pro1252His
XM_017004430.1:c.3149C>A	XP_016859919.1:p.Pro1050His
XM_024452974.1:c.4109C>A	XP_024308742.1:p.Pro1370His
NM_001369346.1:c.3755C>A	NP_001356275.1:p.Pro1252His
NM_001369347.1:c.3149C>A	NP_001356276.1:p.Pro1050His
NM_018263.6:c.3929C>A MANE Select	NP_060733.4:p.Pro1310His