Canonical Allele Identifier: CA1557333

Gene: ASXL2

Linked Data

• dbSNP Id: rs746010291
• ExAC: 2:25964989 G / A
• gnomAD v2: 2-25964989-G-A
• gnomAD v4: 2-25742120-G-A
• MyVariant Identifiers: chr2:g.25964989G>A (hg19) ; chr2:g.25742120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742120G>A , CM000664.2:g.25742120G>A	GRCh38
NC_000002.11:g.25964989G>A , CM000664.1:g.25964989G>A	GRCh37
NC_000002.10:g.25818493G>A	NCBI36
NG_052995.1:g.141397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4214C>T	ENSP00000337250.5:p.Ala1405Val
ENST00000435504.9:c.4217C>T MANE Select	ENSP00000391447.3:p.Ala1406Val
ENST00000336112.8:c.4133C>T	ENSP00000337250.4:p.Ala1378Val
ENST00000404843.5:c.2666C>T	ENSP00000383920.1:p.Ala889Val
ENST00000435504.8:c.4217C>T	ENSP00000391447.3:p.Ala1406Val
NM_018263.4:c.4217C>T	NP_060733.4:p.Ala1406Val
XM_006712039.2:c.3851C>T	XP_006712102.1:p.Ala1284Val
XM_006712040.1:c.3437C>T	XP_006712103.1:p.Ala1146Val
XM_011532950.1:c.4214C>T	XP_011531252.1:p.Ala1405Val
XM_011532951.1:c.4043C>T	XP_011531253.1:p.Ala1348Val
NM_018263.5:c.4217C>T	NP_060733.4:p.Ala1406Val
XM_006712039.3:c.3851C>T	XP_006712102.1:p.Ala1284Val
XM_006712040.2:c.3437C>T	XP_006712103.1:p.Ala1146Val
XM_011532950.3:c.4214C>T	XP_011531252.1:p.Ala1405Val
XM_011532951.2:c.4043C>T	XP_011531253.1:p.Ala1348Val
XM_017004430.1:c.3437C>T	XP_016859919.1:p.Ala1146Val
XM_024452974.1:c.4397C>T	XP_024308742.1:p.Ala1466Val
NM_001369346.1:c.4043C>T	NP_001356275.1:p.Ala1348Val
NM_001369347.1:c.3437C>T	NP_001356276.1:p.Ala1146Val
NM_018263.6:c.4217C>T MANE Select	NP_060733.4:p.Ala1406Val