Canonical Allele Identifier: CA2576695355
Gene: ASXL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742437_25742438insGGCC , CM000664.2:g.25742437_25742438insGGCC GRCh38
NC_000002.11:g.25965306_25965307insGGCC , CM000664.1:g.25965306_25965307insGGCC GRCh37
NC_000002.10:g.25818810_25818811insGGCC NCBI36
NG_052995.1:g.141079_141080insGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3896_3897insGGCC ENSP00000337250.5:p.Ser1299ArgfsTer30
ENST00000435504.9:c.3899_3900insGGCC MANE Select ENSP00000391447.3:p.Ser1300ArgfsTer30
ENST00000336112.8:c.3815_3816insGGCC ENSP00000337250.4:p.Ser1272ArgfsTer30
ENST00000404843.5:c.2348_2349insGGCC ENSP00000383920.1:p.Ser783ArgfsTer30
ENST00000435504.8:c.3899_3900insGGCC ENSP00000391447.3:p.Ser1300ArgfsTer30
NM_018263.4:c.3899_3900insGGCC NP_060733.4:p.Ser1300ArgfsTer30
XM_006712039.2:c.3533_3534insGGCC XP_006712102.1:p.Ser1178ArgfsTer30
XM_006712040.1:c.3119_3120insGGCC XP_006712103.1:p.Ser1040ArgfsTer30
XM_011532950.1:c.3896_3897insGGCC XP_011531252.1:p.Ser1299ArgfsTer30
XM_011532951.1:c.3725_3726insGGCC XP_011531253.1:p.Ser1242ArgfsTer30
NM_018263.5:c.3899_3900insGGCC NP_060733.4:p.Ser1300ArgfsTer30
XM_006712039.3:c.3533_3534insGGCC XP_006712102.1:p.Ser1178ArgfsTer30
XM_006712040.2:c.3119_3120insGGCC XP_006712103.1:p.Ser1040ArgfsTer30
XM_011532950.3:c.3896_3897insGGCC XP_011531252.1:p.Ser1299ArgfsTer30
XM_011532951.2:c.3725_3726insGGCC XP_011531253.1:p.Ser1242ArgfsTer30
XM_017004430.1:c.3119_3120insGGCC XP_016859919.1:p.Ser1040ArgfsTer30
XM_024452974.1:c.4079_4080insGGCC XP_024308742.1:p.Ser1360ArgfsTer30
NM_001369346.1:c.3725_3726insGGCC NP_001356275.1:p.Ser1242ArgfsTer30
NM_001369347.1:c.3119_3120insGGCC NP_001356276.1:p.Ser1040ArgfsTer30
NM_018263.6:c.3899_3900insGGCC MANE Select NP_060733.4:p.Ser1300ArgfsTer30