Canonical Allele Identifier: CA346073578
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742094C>A , CM000664.2:g.25742094C>A GRCh38
NC_000002.11:g.25964963C>A , CM000664.1:g.25964963C>A GRCh37
NC_000002.10:g.25818467C>A NCBI36
NG_052995.1:g.141423G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4240G>T ENSP00000337250.5:p.Ala1414Ser
ENST00000435504.9:c.4243G>T MANE Select ENSP00000391447.3:p.Ala1415Ser
ENST00000336112.8:c.4159G>T ENSP00000337250.4:p.Ala1387Ser
ENST00000404843.5:c.2692G>T ENSP00000383920.1:p.Ala898Ser
ENST00000435504.8:c.4243G>T ENSP00000391447.3:p.Ala1415Ser
NM_018263.4:c.4243G>T NP_060733.4:p.Ala1415Ser
XM_006712039.2:c.3877G>T XP_006712102.1:p.Ala1293Ser
XM_006712040.1:c.3463G>T XP_006712103.1:p.Ala1155Ser
XM_011532950.1:c.4240G>T XP_011531252.1:p.Ala1414Ser
XM_011532951.1:c.4069G>T XP_011531253.1:p.Ala1357Ser
NM_018263.5:c.4243G>T NP_060733.4:p.Ala1415Ser
XM_006712039.3:c.3877G>T XP_006712102.1:p.Ala1293Ser
XM_006712040.2:c.3463G>T XP_006712103.1:p.Ala1155Ser
XM_011532950.3:c.4240G>T XP_011531252.1:p.Ala1414Ser
XM_011532951.2:c.4069G>T XP_011531253.1:p.Ala1357Ser
XM_017004430.1:c.3463G>T XP_016859919.1:p.Ala1155Ser
XM_024452974.1:c.4423G>T XP_024308742.1:p.Ala1475Ser
NM_001369346.1:c.4069G>T NP_001356275.1:p.Ala1357Ser
NM_001369347.1:c.3463G>T NP_001356276.1:p.Ala1155Ser
NM_018263.6:c.4243G>T MANE Select NP_060733.4:p.Ala1415Ser