Canonical Allele Identifier: CA346076299
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742586T>G , CM000664.2:g.25742586T>G GRCh38
NC_000002.11:g.25965455T>G , CM000664.1:g.25965455T>G GRCh37
NC_000002.10:g.25818959T>G NCBI36
NG_052995.1:g.140931A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3748A>C ENSP00000337250.5:p.Thr1250Pro
ENST00000435504.9:c.3751A>C MANE Select ENSP00000391447.3:p.Thr1251Pro
ENST00000336112.8:c.3667A>C ENSP00000337250.4:p.Thr1223Pro
ENST00000404843.5:c.2200A>C ENSP00000383920.1:p.Thr734Pro
ENST00000435504.8:c.3751A>C ENSP00000391447.3:p.Thr1251Pro
NM_018263.4:c.3751A>C NP_060733.4:p.Thr1251Pro
XM_006712039.2:c.3385A>C XP_006712102.1:p.Thr1129Pro
XM_006712040.1:c.2971A>C XP_006712103.1:p.Thr991Pro
XM_011532950.1:c.3748A>C XP_011531252.1:p.Thr1250Pro
XM_011532951.1:c.3577A>C XP_011531253.1:p.Thr1193Pro
NM_018263.5:c.3751A>C NP_060733.4:p.Thr1251Pro
XM_006712039.3:c.3385A>C XP_006712102.1:p.Thr1129Pro
XM_006712040.2:c.2971A>C XP_006712103.1:p.Thr991Pro
XM_011532950.3:c.3748A>C XP_011531252.1:p.Thr1250Pro
XM_011532951.2:c.3577A>C XP_011531253.1:p.Thr1193Pro
XM_017004430.1:c.2971A>C XP_016859919.1:p.Thr991Pro
XM_024452974.1:c.3931A>C XP_024308742.1:p.Thr1311Pro
NM_001369346.1:c.3577A>C NP_001356275.1:p.Thr1193Pro
NM_001369347.1:c.2971A>C NP_001356276.1:p.Thr991Pro
NM_018263.6:c.3751A>C MANE Select NP_060733.4:p.Thr1251Pro