Canonical Allele Identifier: CA346073473
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742048G>A , CM000664.2:g.25742048G>A GRCh38
NC_000002.11:g.25964917G>A , CM000664.1:g.25964917G>A GRCh37
NC_000002.10:g.25818421G>A NCBI36
NG_052995.1:g.141469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4286C>T ENSP00000337250.5:p.Ser1429Phe
ENST00000435504.9:c.4289C>T MANE Select ENSP00000391447.3:p.Ser1430Phe
ENST00000336112.8:c.4205C>T ENSP00000337250.4:p.Ser1402Phe
ENST00000404843.5:c.2738C>T ENSP00000383920.1:p.Ser913Phe
ENST00000435504.8:c.4289C>T ENSP00000391447.3:p.Ser1430Phe
NM_018263.4:c.4289C>T NP_060733.4:p.Ser1430Phe
XM_006712039.2:c.3923C>T XP_006712102.1:p.Ser1308Phe
XM_006712040.1:c.3509C>T XP_006712103.1:p.Ser1170Phe
XM_011532950.1:c.4286C>T XP_011531252.1:p.Ser1429Phe
XM_011532951.1:c.4115C>T XP_011531253.1:p.Ser1372Phe
NM_018263.5:c.4289C>T NP_060733.4:p.Ser1430Phe
XM_006712039.3:c.3923C>T XP_006712102.1:p.Ser1308Phe
XM_006712040.2:c.3509C>T XP_006712103.1:p.Ser1170Phe
XM_011532950.3:c.4286C>T XP_011531252.1:p.Ser1429Phe
XM_011532951.2:c.4115C>T XP_011531253.1:p.Ser1372Phe
XM_017004430.1:c.3509C>T XP_016859919.1:p.Ser1170Phe
XM_024452974.1:c.4469C>T XP_024308742.1:p.Ser1490Phe
NM_001369346.1:c.4115C>T NP_001356275.1:p.Ser1372Phe
NM_001369347.1:c.3509C>T NP_001356276.1:p.Ser1170Phe
NM_018263.6:c.4289C>T MANE Select NP_060733.4:p.Ser1430Phe