Canonical Allele Identifier: CA346075248
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742420A>T , CM000664.2:g.25742420A>T GRCh38
NC_000002.11:g.25965289A>T , CM000664.1:g.25965289A>T GRCh37
NC_000002.10:g.25818793A>T NCBI36
NG_052995.1:g.141097T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3914T>A ENSP00000337250.5:p.Leu1305Gln
ENST00000435504.9:c.3917T>A MANE Select ENSP00000391447.3:p.Leu1306Gln
ENST00000336112.8:c.3833T>A ENSP00000337250.4:p.Leu1278Gln
ENST00000404843.5:c.2366T>A ENSP00000383920.1:p.Leu789Gln
ENST00000435504.8:c.3917T>A ENSP00000391447.3:p.Leu1306Gln
NM_018263.4:c.3917T>A NP_060733.4:p.Leu1306Gln
XM_006712039.2:c.3551T>A XP_006712102.1:p.Leu1184Gln
XM_006712040.1:c.3137T>A XP_006712103.1:p.Leu1046Gln
XM_011532950.1:c.3914T>A XP_011531252.1:p.Leu1305Gln
XM_011532951.1:c.3743T>A XP_011531253.1:p.Leu1248Gln
NM_018263.5:c.3917T>A NP_060733.4:p.Leu1306Gln
XM_006712039.3:c.3551T>A XP_006712102.1:p.Leu1184Gln
XM_006712040.2:c.3137T>A XP_006712103.1:p.Leu1046Gln
XM_011532950.3:c.3914T>A XP_011531252.1:p.Leu1305Gln
XM_011532951.2:c.3743T>A XP_011531253.1:p.Leu1248Gln
XM_017004430.1:c.3137T>A XP_016859919.1:p.Leu1046Gln
XM_024452974.1:c.4097T>A XP_024308742.1:p.Leu1366Gln
NM_001369346.1:c.3743T>A NP_001356275.1:p.Leu1248Gln
NM_001369347.1:c.3137T>A NP_001356276.1:p.Leu1046Gln
NM_018263.6:c.3917T>A MANE Select NP_060733.4:p.Leu1306Gln