Canonical Allele Identifier: CA346073685
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742139A>T , CM000664.2:g.25742139A>T GRCh38
NC_000002.11:g.25965008A>T , CM000664.1:g.25965008A>T GRCh37
NC_000002.10:g.25818512A>T NCBI36
NG_052995.1:g.141378T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4195T>A ENSP00000337250.5:p.Cys1399Ser
ENST00000435504.9:c.4198T>A MANE Select ENSP00000391447.3:p.Cys1400Ser
ENST00000336112.8:c.4114T>A ENSP00000337250.4:p.Cys1372Ser
ENST00000404843.5:c.2647T>A ENSP00000383920.1:p.Cys883Ser
ENST00000435504.8:c.4198T>A ENSP00000391447.3:p.Cys1400Ser
NM_018263.4:c.4198T>A NP_060733.4:p.Cys1400Ser
XM_006712039.2:c.3832T>A XP_006712102.1:p.Cys1278Ser
XM_006712040.1:c.3418T>A XP_006712103.1:p.Cys1140Ser
XM_011532950.1:c.4195T>A XP_011531252.1:p.Cys1399Ser
XM_011532951.1:c.4024T>A XP_011531253.1:p.Cys1342Ser
NM_018263.5:c.4198T>A NP_060733.4:p.Cys1400Ser
XM_006712039.3:c.3832T>A XP_006712102.1:p.Cys1278Ser
XM_006712040.2:c.3418T>A XP_006712103.1:p.Cys1140Ser
XM_011532950.3:c.4195T>A XP_011531252.1:p.Cys1399Ser
XM_011532951.2:c.4024T>A XP_011531253.1:p.Cys1342Ser
XM_017004430.1:c.3418T>A XP_016859919.1:p.Cys1140Ser
XM_024452974.1:c.4378T>A XP_024308742.1:p.Cys1460Ser
NM_001369346.1:c.4024T>A NP_001356275.1:p.Cys1342Ser
NM_001369347.1:c.3418T>A NP_001356276.1:p.Cys1140Ser
NM_018263.6:c.4198T>A MANE Select NP_060733.4:p.Cys1400Ser