Canonical Allele Identifier: CA346073918

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 1354065
• ClinVar RCV Id: RCV001887719
• dbSNP Id: rs1365887154
• MyVariant Identifiers: chr2:g.25965091G>A (hg19) ; chr2:g.25742222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742222G>A , CM000664.2:g.25742222G>A	GRCh38
NC_000002.11:g.25965091G>A , CM000664.1:g.25965091G>A	GRCh37
NC_000002.10:g.25818595G>A	NCBI36
NG_052995.1:g.141295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4112C>T	ENSP00000337250.5:p.Ala1371Val
ENST00000435504.9:c.4115C>T MANE Select	ENSP00000391447.3:p.Ala1372Val
ENST00000336112.8:c.4031C>T	ENSP00000337250.4:p.Ala1344Val
ENST00000404843.5:c.2564C>T	ENSP00000383920.1:p.Ala855Val
ENST00000435504.8:c.4115C>T	ENSP00000391447.3:p.Ala1372Val
NM_018263.4:c.4115C>T	NP_060733.4:p.Ala1372Val
XM_006712039.2:c.3749C>T	XP_006712102.1:p.Ala1250Val
XM_006712040.1:c.3335C>T	XP_006712103.1:p.Ala1112Val
XM_011532950.1:c.4112C>T	XP_011531252.1:p.Ala1371Val
XM_011532951.1:c.3941C>T	XP_011531253.1:p.Ala1314Val
NM_018263.5:c.4115C>T	NP_060733.4:p.Ala1372Val
XM_006712039.3:c.3749C>T	XP_006712102.1:p.Ala1250Val
XM_006712040.2:c.3335C>T	XP_006712103.1:p.Ala1112Val
XM_011532950.3:c.4112C>T	XP_011531252.1:p.Ala1371Val
XM_011532951.2:c.3941C>T	XP_011531253.1:p.Ala1314Val
XM_017004430.1:c.3335C>T	XP_016859919.1:p.Ala1112Val
XM_024452974.1:c.4295C>T	XP_024308742.1:p.Ala1432Val
NM_001369346.1:c.3941C>T	NP_001356275.1:p.Ala1314Val
NM_001369347.1:c.3335C>T	NP_001356276.1:p.Ala1112Val
NM_018263.6:c.4115C>T MANE Select	NP_060733.4:p.Ala1372Val