Canonical Allele Identifier: CA346073464
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742043G>T , CM000664.2:g.25742043G>T GRCh38
NC_000002.11:g.25964912G>T , CM000664.1:g.25964912G>T GRCh37
NC_000002.10:g.25818416G>T NCBI36
NG_052995.1:g.141474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4291C>A ENSP00000337250.5:p.Leu1431Ile
ENST00000435504.9:c.4294C>A MANE Select ENSP00000391447.3:p.Leu1432Ile
ENST00000336112.8:c.4210C>A ENSP00000337250.4:p.Leu1404Ile
ENST00000404843.5:c.2743C>A ENSP00000383920.1:p.Leu915Ile
ENST00000435504.8:c.4294C>A ENSP00000391447.3:p.Leu1432Ile
NM_018263.4:c.4294C>A NP_060733.4:p.Leu1432Ile
XM_006712039.2:c.3928C>A XP_006712102.1:p.Leu1310Ile
XM_006712040.1:c.3514C>A XP_006712103.1:p.Leu1172Ile
XM_011532950.1:c.4291C>A XP_011531252.1:p.Leu1431Ile
XM_011532951.1:c.4120C>A XP_011531253.1:p.Leu1374Ile
NM_018263.5:c.4294C>A NP_060733.4:p.Leu1432Ile
XM_006712039.3:c.3928C>A XP_006712102.1:p.Leu1310Ile
XM_006712040.2:c.3514C>A XP_006712103.1:p.Leu1172Ile
XM_011532950.3:c.4291C>A XP_011531252.1:p.Leu1431Ile
XM_011532951.2:c.4120C>A XP_011531253.1:p.Leu1374Ile
XM_017004430.1:c.3514C>A XP_016859919.1:p.Leu1172Ile
XM_024452974.1:c.4474C>A XP_024308742.1:p.Leu1492Ile
NM_001369346.1:c.4120C>A NP_001356275.1:p.Leu1374Ile
NM_001369347.1:c.3514C>A NP_001356276.1:p.Leu1172Ile
NM_018263.6:c.4294C>A MANE Select NP_060733.4:p.Leu1432Ile