Canonical Allele Identifier: CA425181350
Gene: ASXL2 HGNC NCBI

Linked Data

gnomAD v4: 2-25742155-C-T
MyVariant Identifiers: chr2:g.25965024C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742155C>T , CM000664.2:g.25742155C>T GRCh38
NC_000002.11:g.25965024C>T , CM000664.1:g.25965024C>T GRCh37
NC_000002.10:g.25818528C>T NCBI36
NG_052995.1:g.141362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4179G>A ENSP00000337250.5:p.Glu1393=
ENST00000435504.9:c.4182G>A MANE Select ENSP00000391447.3:p.Glu1394=
ENST00000336112.8:c.4098G>A ENSP00000337250.4:p.Glu1366=
ENST00000404843.5:c.2631G>A ENSP00000383920.1:p.Glu877=
ENST00000435504.8:c.4182G>A ENSP00000391447.3:p.Glu1394=
NM_018263.4:c.4182G>A NP_060733.4:p.Glu1394=
XM_006712039.2:c.3816G>A XP_006712102.1:p.Glu1272=
XM_006712040.1:c.3402G>A XP_006712103.1:p.Glu1134=
XM_011532950.1:c.4179G>A XP_011531252.1:p.Glu1393=
XM_011532951.1:c.4008G>A XP_011531253.1:p.Glu1336=
NM_018263.5:c.4182G>A NP_060733.4:p.Glu1394=
XM_006712039.3:c.3816G>A XP_006712102.1:p.Glu1272=
XM_006712040.2:c.3402G>A XP_006712103.1:p.Glu1134=
XM_011532950.3:c.4179G>A XP_011531252.1:p.Glu1393=
XM_011532951.2:c.4008G>A XP_011531253.1:p.Glu1336=
XM_017004430.1:c.3402G>A XP_016859919.1:p.Glu1134=
XM_024452974.1:c.4362G>A XP_024308742.1:p.Glu1454=
NM_001369346.1:c.4008G>A NP_001356275.1:p.Glu1336=
NM_001369347.1:c.3402G>A NP_001356276.1:p.Glu1134=
NM_018263.6:c.4182G>A MANE Select NP_060733.4:p.Glu1394=