Canonical Allele Identifier: CA346075549
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742471A>G , CM000664.2:g.25742471A>G GRCh38
NC_000002.11:g.25965340A>G , CM000664.1:g.25965340A>G GRCh37
NC_000002.10:g.25818844A>G NCBI36
NG_052995.1:g.141046T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3863T>C ENSP00000337250.5:p.Phe1288Ser
ENST00000435504.9:c.3866T>C MANE Select ENSP00000391447.3:p.Phe1289Ser
ENST00000336112.8:c.3782T>C ENSP00000337250.4:p.Phe1261Ser
ENST00000404843.5:c.2315T>C ENSP00000383920.1:p.Phe772Ser
ENST00000435504.8:c.3866T>C ENSP00000391447.3:p.Phe1289Ser
NM_018263.4:c.3866T>C NP_060733.4:p.Phe1289Ser
XM_006712039.2:c.3500T>C XP_006712102.1:p.Phe1167Ser
XM_006712040.1:c.3086T>C XP_006712103.1:p.Phe1029Ser
XM_011532950.1:c.3863T>C XP_011531252.1:p.Phe1288Ser
XM_011532951.1:c.3692T>C XP_011531253.1:p.Phe1231Ser
NM_018263.5:c.3866T>C NP_060733.4:p.Phe1289Ser
XM_006712039.3:c.3500T>C XP_006712102.1:p.Phe1167Ser
XM_006712040.2:c.3086T>C XP_006712103.1:p.Phe1029Ser
XM_011532950.3:c.3863T>C XP_011531252.1:p.Phe1288Ser
XM_011532951.2:c.3692T>C XP_011531253.1:p.Phe1231Ser
XM_017004430.1:c.3086T>C XP_016859919.1:p.Phe1029Ser
XM_024452974.1:c.4046T>C XP_024308742.1:p.Phe1349Ser
NM_001369346.1:c.3692T>C NP_001356275.1:p.Phe1231Ser
NM_001369347.1:c.3086T>C NP_001356276.1:p.Phe1029Ser
NM_018263.6:c.3866T>C MANE Select NP_060733.4:p.Phe1289Ser