Canonical Allele Identifier: CA346073665
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742132C>G , CM000664.2:g.25742132C>G GRCh38
NC_000002.11:g.25965001C>G , CM000664.1:g.25965001C>G GRCh37
NC_000002.10:g.25818505C>G NCBI36
NG_052995.1:g.141385G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4202G>C ENSP00000337250.5:p.Cys1401Ser
ENST00000435504.9:c.4205G>C MANE Select ENSP00000391447.3:p.Cys1402Ser
ENST00000336112.8:c.4121G>C ENSP00000337250.4:p.Cys1374Ser
ENST00000404843.5:c.2654G>C ENSP00000383920.1:p.Cys885Ser
ENST00000435504.8:c.4205G>C ENSP00000391447.3:p.Cys1402Ser
NM_018263.4:c.4205G>C NP_060733.4:p.Cys1402Ser
XM_006712039.2:c.3839G>C XP_006712102.1:p.Cys1280Ser
XM_006712040.1:c.3425G>C XP_006712103.1:p.Cys1142Ser
XM_011532950.1:c.4202G>C XP_011531252.1:p.Cys1401Ser
XM_011532951.1:c.4031G>C XP_011531253.1:p.Cys1344Ser
NM_018263.5:c.4205G>C NP_060733.4:p.Cys1402Ser
XM_006712039.3:c.3839G>C XP_006712102.1:p.Cys1280Ser
XM_006712040.2:c.3425G>C XP_006712103.1:p.Cys1142Ser
XM_011532950.3:c.4202G>C XP_011531252.1:p.Cys1401Ser
XM_011532951.2:c.4031G>C XP_011531253.1:p.Cys1344Ser
XM_017004430.1:c.3425G>C XP_016859919.1:p.Cys1142Ser
XM_024452974.1:c.4385G>C XP_024308742.1:p.Cys1462Ser
NM_001369346.1:c.4031G>C NP_001356275.1:p.Cys1344Ser
NM_001369347.1:c.3425G>C NP_001356276.1:p.Cys1142Ser
NM_018263.6:c.4205G>C MANE Select NP_060733.4:p.Cys1402Ser