Canonical Allele Identifier: CA346073798
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742193T>G , CM000664.2:g.25742193T>G GRCh38
NC_000002.11:g.25965062T>G , CM000664.1:g.25965062T>G GRCh37
NC_000002.10:g.25818566T>G NCBI36
NG_052995.1:g.141324A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4141A>C ENSP00000337250.5:p.Ile1381Leu
ENST00000435504.9:c.4144A>C MANE Select ENSP00000391447.3:p.Ile1382Leu
ENST00000336112.8:c.4060A>C ENSP00000337250.4:p.Ile1354Leu
ENST00000404843.5:c.2593A>C ENSP00000383920.1:p.Ile865Leu
ENST00000435504.8:c.4144A>C ENSP00000391447.3:p.Ile1382Leu
NM_018263.4:c.4144A>C NP_060733.4:p.Ile1382Leu
XM_006712039.2:c.3778A>C XP_006712102.1:p.Ile1260Leu
XM_006712040.1:c.3364A>C XP_006712103.1:p.Ile1122Leu
XM_011532950.1:c.4141A>C XP_011531252.1:p.Ile1381Leu
XM_011532951.1:c.3970A>C XP_011531253.1:p.Ile1324Leu
NM_018263.5:c.4144A>C NP_060733.4:p.Ile1382Leu
XM_006712039.3:c.3778A>C XP_006712102.1:p.Ile1260Leu
XM_006712040.2:c.3364A>C XP_006712103.1:p.Ile1122Leu
XM_011532950.3:c.4141A>C XP_011531252.1:p.Ile1381Leu
XM_011532951.2:c.3970A>C XP_011531253.1:p.Ile1324Leu
XM_017004430.1:c.3364A>C XP_016859919.1:p.Ile1122Leu
XM_024452974.1:c.4324A>C XP_024308742.1:p.Ile1442Leu
NM_001369346.1:c.3970A>C NP_001356275.1:p.Ile1324Leu
NM_001369347.1:c.3364A>C NP_001356276.1:p.Ile1122Leu
NM_018263.6:c.4144A>C MANE Select NP_060733.4:p.Ile1382Leu