Canonical Allele Identifier: CA346076111
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742556G>T , CM000664.2:g.25742556G>T GRCh38
NC_000002.11:g.25965425G>T , CM000664.1:g.25965425G>T GRCh37
NC_000002.10:g.25818929G>T NCBI36
NG_052995.1:g.140961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3778C>A ENSP00000337250.5:p.Leu1260Ile
ENST00000435504.9:c.3781C>A MANE Select ENSP00000391447.3:p.Leu1261Ile
ENST00000336112.8:c.3697C>A ENSP00000337250.4:p.Leu1233Ile
ENST00000404843.5:c.2230C>A ENSP00000383920.1:p.Leu744Ile
ENST00000435504.8:c.3781C>A ENSP00000391447.3:p.Leu1261Ile
NM_018263.4:c.3781C>A NP_060733.4:p.Leu1261Ile
XM_006712039.2:c.3415C>A XP_006712102.1:p.Leu1139Ile
XM_006712040.1:c.3001C>A XP_006712103.1:p.Leu1001Ile
XM_011532950.1:c.3778C>A XP_011531252.1:p.Leu1260Ile
XM_011532951.1:c.3607C>A XP_011531253.1:p.Leu1203Ile
NM_018263.5:c.3781C>A NP_060733.4:p.Leu1261Ile
XM_006712039.3:c.3415C>A XP_006712102.1:p.Leu1139Ile
XM_006712040.2:c.3001C>A XP_006712103.1:p.Leu1001Ile
XM_011532950.3:c.3778C>A XP_011531252.1:p.Leu1260Ile
XM_011532951.2:c.3607C>A XP_011531253.1:p.Leu1203Ile
XM_017004430.1:c.3001C>A XP_016859919.1:p.Leu1001Ile
XM_024452974.1:c.3961C>A XP_024308742.1:p.Leu1321Ile
NM_001369346.1:c.3607C>A NP_001356275.1:p.Leu1203Ile
NM_001369347.1:c.3001C>A NP_001356276.1:p.Leu1001Ile
NM_018263.6:c.3781C>A MANE Select NP_060733.4:p.Leu1261Ile