Canonical Allele Identifier: CA346073969

Gene: ASXL2

Linked Data

• dbSNP Id: rs1409850365
• gnomAD v3: 2-25742231-G-A
• gnomAD v4: 2-25742231-G-A
• MyVariant Identifiers: chr2:g.25965100G>A (hg19) ; chr2:g.25742231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742231G>A , CM000664.2:g.25742231G>A	GRCh38
NC_000002.11:g.25965100G>A , CM000664.1:g.25965100G>A	GRCh37
NC_000002.10:g.25818604G>A	NCBI36
NG_052995.1:g.141286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4103C>T	ENSP00000337250.5:p.Ala1368Val
ENST00000435504.9:c.4106C>T MANE Select	ENSP00000391447.3:p.Ala1369Val
ENST00000336112.8:c.4022C>T	ENSP00000337250.4:p.Ala1341Val
ENST00000404843.5:c.2555C>T	ENSP00000383920.1:p.Ala852Val
ENST00000435504.8:c.4106C>T	ENSP00000391447.3:p.Ala1369Val
NM_018263.4:c.4106C>T	NP_060733.4:p.Ala1369Val
XM_006712039.2:c.3740C>T	XP_006712102.1:p.Ala1247Val
XM_006712040.1:c.3326C>T	XP_006712103.1:p.Ala1109Val
XM_011532950.1:c.4103C>T	XP_011531252.1:p.Ala1368Val
XM_011532951.1:c.3932C>T	XP_011531253.1:p.Ala1311Val
NM_018263.5:c.4106C>T	NP_060733.4:p.Ala1369Val
XM_006712039.3:c.3740C>T	XP_006712102.1:p.Ala1247Val
XM_006712040.2:c.3326C>T	XP_006712103.1:p.Ala1109Val
XM_011532950.3:c.4103C>T	XP_011531252.1:p.Ala1368Val
XM_011532951.2:c.3932C>T	XP_011531253.1:p.Ala1311Val
XM_017004430.1:c.3326C>T	XP_016859919.1:p.Ala1109Val
XM_024452974.1:c.4286C>T	XP_024308742.1:p.Ala1429Val
NM_001369346.1:c.3932C>T	NP_001356275.1:p.Ala1311Val
NM_001369347.1:c.3326C>T	NP_001356276.1:p.Ala1109Val
NM_018263.6:c.4106C>T MANE Select	NP_060733.4:p.Ala1369Val