Canonical Allele Identifier: CA346075078
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742390A>T , CM000664.2:g.25742390A>T GRCh38
NC_000002.11:g.25965259A>T , CM000664.1:g.25965259A>T GRCh37
NC_000002.10:g.25818763A>T NCBI36
NG_052995.1:g.141127T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3944T>A ENSP00000337250.5:p.Leu1315Ter
ENST00000435504.9:c.3947T>A MANE Select ENSP00000391447.3:p.Leu1316Ter
ENST00000336112.8:c.3863T>A ENSP00000337250.4:p.Leu1288Ter
ENST00000404843.5:c.2396T>A ENSP00000383920.1:p.Leu799Ter
ENST00000435504.8:c.3947T>A ENSP00000391447.3:p.Leu1316Ter
NM_018263.4:c.3947T>A NP_060733.4:p.Leu1316Ter
XM_006712039.2:c.3581T>A XP_006712102.1:p.Leu1194Ter
XM_006712040.1:c.3167T>A XP_006712103.1:p.Leu1056Ter
XM_011532950.1:c.3944T>A XP_011531252.1:p.Leu1315Ter
XM_011532951.1:c.3773T>A XP_011531253.1:p.Leu1258Ter
NM_018263.5:c.3947T>A NP_060733.4:p.Leu1316Ter
XM_006712039.3:c.3581T>A XP_006712102.1:p.Leu1194Ter
XM_006712040.2:c.3167T>A XP_006712103.1:p.Leu1056Ter
XM_011532950.3:c.3944T>A XP_011531252.1:p.Leu1315Ter
XM_011532951.2:c.3773T>A XP_011531253.1:p.Leu1258Ter
XM_017004430.1:c.3167T>A XP_016859919.1:p.Leu1056Ter
XM_024452974.1:c.4127T>A XP_024308742.1:p.Leu1376Ter
NM_001369346.1:c.3773T>A NP_001356275.1:p.Leu1258Ter
NM_001369347.1:c.3167T>A NP_001356276.1:p.Leu1056Ter
NM_018263.6:c.3947T>A MANE Select NP_060733.4:p.Leu1316Ter