Canonical Allele Identifier: CA346075063
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742388A>G , CM000664.2:g.25742388A>G GRCh38
NC_000002.11:g.25965257A>G , CM000664.1:g.25965257A>G GRCh37
NC_000002.10:g.25818761A>G NCBI36
NG_052995.1:g.141129T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3946T>C ENSP00000337250.5:p.Tyr1316His
ENST00000435504.9:c.3949T>C MANE Select ENSP00000391447.3:p.Tyr1317His
ENST00000336112.8:c.3865T>C ENSP00000337250.4:p.Tyr1289His
ENST00000404843.5:c.2398T>C ENSP00000383920.1:p.Tyr800His
ENST00000435504.8:c.3949T>C ENSP00000391447.3:p.Tyr1317His
NM_018263.4:c.3949T>C NP_060733.4:p.Tyr1317His
XM_006712039.2:c.3583T>C XP_006712102.1:p.Tyr1195His
XM_006712040.1:c.3169T>C XP_006712103.1:p.Tyr1057His
XM_011532950.1:c.3946T>C XP_011531252.1:p.Tyr1316His
XM_011532951.1:c.3775T>C XP_011531253.1:p.Tyr1259His
NM_018263.5:c.3949T>C NP_060733.4:p.Tyr1317His
XM_006712039.3:c.3583T>C XP_006712102.1:p.Tyr1195His
XM_006712040.2:c.3169T>C XP_006712103.1:p.Tyr1057His
XM_011532950.3:c.3946T>C XP_011531252.1:p.Tyr1316His
XM_011532951.2:c.3775T>C XP_011531253.1:p.Tyr1259His
XM_017004430.1:c.3169T>C XP_016859919.1:p.Tyr1057His
XM_024452974.1:c.4129T>C XP_024308742.1:p.Tyr1377His
NM_001369346.1:c.3775T>C NP_001356275.1:p.Tyr1259His
NM_001369347.1:c.3169T>C NP_001356276.1:p.Tyr1057His
NM_018263.6:c.3949T>C MANE Select NP_060733.4:p.Tyr1317His