Canonical Allele Identifier: CA43734177

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 737525
• ClinVar RCV Id: RCV000913308 ; RCV002542126
• dbSNP Id: rs780551383
• gnomAD v2: 2-25965049-G-A
• gnomAD v4: 2-25742180-G-A
• COSMIC: COSM1407133 ; COSM1407134
• MyVariant Identifiers: chr2:g.25965049G>A (hg19) ; chr2:g.25742180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742180G>A , CM000664.2:g.25742180G>A	GRCh38
NC_000002.11:g.25965049G>A , CM000664.1:g.25965049G>A	GRCh37
NC_000002.10:g.25818553G>A	NCBI36
NG_052995.1:g.141337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4154C>T	ENSP00000337250.5:p.Ala1385Val
ENST00000435504.9:c.4157C>T MANE Select	ENSP00000391447.3:p.Ala1386Val
ENST00000336112.8:c.4073C>T	ENSP00000337250.4:p.Ala1358Val
ENST00000404843.5:c.2606C>T	ENSP00000383920.1:p.Ala869Val
ENST00000435504.8:c.4157C>T	ENSP00000391447.3:p.Ala1386Val
NM_018263.4:c.4157C>T	NP_060733.4:p.Ala1386Val
XM_006712039.2:c.3791C>T	XP_006712102.1:p.Ala1264Val
XM_006712040.1:c.3377C>T	XP_006712103.1:p.Ala1126Val
XM_011532950.1:c.4154C>T	XP_011531252.1:p.Ala1385Val
XM_011532951.1:c.3983C>T	XP_011531253.1:p.Ala1328Val
NM_018263.5:c.4157C>T	NP_060733.4:p.Ala1386Val
XM_006712039.3:c.3791C>T	XP_006712102.1:p.Ala1264Val
XM_006712040.2:c.3377C>T	XP_006712103.1:p.Ala1126Val
XM_011532950.3:c.4154C>T	XP_011531252.1:p.Ala1385Val
XM_011532951.2:c.3983C>T	XP_011531253.1:p.Ala1328Val
XM_017004430.1:c.3377C>T	XP_016859919.1:p.Ala1126Val
XM_024452974.1:c.4337C>T	XP_024308742.1:p.Ala1446Val
NM_001369346.1:c.3983C>T	NP_001356275.1:p.Ala1328Val
NM_001369347.1:c.3377C>T	NP_001356276.1:p.Ala1126Val
NM_018263.6:c.4157C>T MANE Select	NP_060733.4:p.Ala1386Val