Canonical Allele Identifier: CA346075322
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742432G>A , CM000664.2:g.25742432G>A GRCh38
NC_000002.11:g.25965301G>A , CM000664.1:g.25965301G>A GRCh37
NC_000002.10:g.25818805G>A NCBI36
NG_052995.1:g.141085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3902C>T ENSP00000337250.5:p.Thr1301Ile
ENST00000435504.9:c.3905C>T MANE Select ENSP00000391447.3:p.Thr1302Ile
ENST00000336112.8:c.3821C>T ENSP00000337250.4:p.Thr1274Ile
ENST00000404843.5:c.2354C>T ENSP00000383920.1:p.Thr785Ile
ENST00000435504.8:c.3905C>T ENSP00000391447.3:p.Thr1302Ile
NM_018263.4:c.3905C>T NP_060733.4:p.Thr1302Ile
XM_006712039.2:c.3539C>T XP_006712102.1:p.Thr1180Ile
XM_006712040.1:c.3125C>T XP_006712103.1:p.Thr1042Ile
XM_011532950.1:c.3902C>T XP_011531252.1:p.Thr1301Ile
XM_011532951.1:c.3731C>T XP_011531253.1:p.Thr1244Ile
NM_018263.5:c.3905C>T NP_060733.4:p.Thr1302Ile
XM_006712039.3:c.3539C>T XP_006712102.1:p.Thr1180Ile
XM_006712040.2:c.3125C>T XP_006712103.1:p.Thr1042Ile
XM_011532950.3:c.3902C>T XP_011531252.1:p.Thr1301Ile
XM_011532951.2:c.3731C>T XP_011531253.1:p.Thr1244Ile
XM_017004430.1:c.3125C>T XP_016859919.1:p.Thr1042Ile
XM_024452974.1:c.4085C>T XP_024308742.1:p.Thr1362Ile
NM_001369346.1:c.3731C>T NP_001356275.1:p.Thr1244Ile
NM_001369347.1:c.3125C>T NP_001356276.1:p.Thr1042Ile
NM_018263.6:c.3905C>T MANE Select NP_060733.4:p.Thr1302Ile