Canonical Allele Identifier: CA346073462
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4291C>T ENSP00000337250.5:p.Leu1431Phe
ENST00000435504.9:c.4294C>T MANE Select ENSP00000391447.3:p.Leu1432Phe
ENST00000336112.8:c.4210C>T ENSP00000337250.4:p.Leu1404Phe
ENST00000404843.5:c.2743C>T ENSP00000383920.1:p.Leu915Phe
ENST00000435504.8:c.4294C>T ENSP00000391447.3:p.Leu1432Phe
NM_018263.4:c.4294C>T NP_060733.4:p.Leu1432Phe
XM_006712039.2:c.3928C>T XP_006712102.1:p.Leu1310Phe
XM_006712040.1:c.3514C>T XP_006712103.1:p.Leu1172Phe
XM_011532950.1:c.4291C>T XP_011531252.1:p.Leu1431Phe
XM_011532951.1:c.4120C>T XP_011531253.1:p.Leu1374Phe
NM_018263.5:c.4294C>T NP_060733.4:p.Leu1432Phe
XM_006712039.3:c.3928C>T XP_006712102.1:p.Leu1310Phe
XM_006712040.2:c.3514C>T XP_006712103.1:p.Leu1172Phe
XM_011532950.3:c.4291C>T XP_011531252.1:p.Leu1431Phe
XM_011532951.2:c.4120C>T XP_011531253.1:p.Leu1374Phe
XM_017004430.1:c.3514C>T XP_016859919.1:p.Leu1172Phe
XM_024452974.1:c.4474C>T XP_024308742.1:p.Leu1492Phe
NM_001369346.1:c.4120C>T NP_001356275.1:p.Leu1374Phe
NM_001369347.1:c.3514C>T NP_001356276.1:p.Leu1172Phe
NM_018263.6:c.4294C>T MANE Select NP_060733.4:p.Leu1432Phe