Canonical Allele Identifier: CA346073649
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742123T>G , CM000664.2:g.25742123T>G GRCh38
NC_000002.11:g.25964992T>G , CM000664.1:g.25964992T>G GRCh37
NC_000002.10:g.25818496T>G NCBI36
NG_052995.1:g.141394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4211A>C ENSP00000337250.5:p.Lys1404Thr
ENST00000435504.9:c.4214A>C MANE Select ENSP00000391447.3:p.Lys1405Thr
ENST00000336112.8:c.4130A>C ENSP00000337250.4:p.Lys1377Thr
ENST00000404843.5:c.2663A>C ENSP00000383920.1:p.Lys888Thr
ENST00000435504.8:c.4214A>C ENSP00000391447.3:p.Lys1405Thr
NM_018263.4:c.4214A>C NP_060733.4:p.Lys1405Thr
XM_006712039.2:c.3848A>C XP_006712102.1:p.Lys1283Thr
XM_006712040.1:c.3434A>C XP_006712103.1:p.Lys1145Thr
XM_011532950.1:c.4211A>C XP_011531252.1:p.Lys1404Thr
XM_011532951.1:c.4040A>C XP_011531253.1:p.Lys1347Thr
NM_018263.5:c.4214A>C NP_060733.4:p.Lys1405Thr
XM_006712039.3:c.3848A>C XP_006712102.1:p.Lys1283Thr
XM_006712040.2:c.3434A>C XP_006712103.1:p.Lys1145Thr
XM_011532950.3:c.4211A>C XP_011531252.1:p.Lys1404Thr
XM_011532951.2:c.4040A>C XP_011531253.1:p.Lys1347Thr
XM_017004430.1:c.3434A>C XP_016859919.1:p.Lys1145Thr
XM_024452974.1:c.4394A>C XP_024308742.1:p.Lys1465Thr
NM_001369346.1:c.4040A>C NP_001356275.1:p.Lys1347Thr
NM_001369347.1:c.3434A>C NP_001356276.1:p.Lys1145Thr
NM_018263.6:c.4214A>C MANE Select NP_060733.4:p.Lys1405Thr