Canonical Allele Identifier: CA346073704
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742148G>A , CM000664.2:g.25742148G>A GRCh38
NC_000002.11:g.25965017G>A , CM000664.1:g.25965017G>A GRCh37
NC_000002.10:g.25818521G>A NCBI36
NG_052995.1:g.141369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4186C>T ENSP00000337250.5:p.Pro1396Ser
ENST00000435504.9:c.4189C>T MANE Select ENSP00000391447.3:p.Pro1397Ser
ENST00000336112.8:c.4105C>T ENSP00000337250.4:p.Pro1369Ser
ENST00000404843.5:c.2638C>T ENSP00000383920.1:p.Pro880Ser
ENST00000435504.8:c.4189C>T ENSP00000391447.3:p.Pro1397Ser
NM_018263.4:c.4189C>T NP_060733.4:p.Pro1397Ser
XM_006712039.2:c.3823C>T XP_006712102.1:p.Pro1275Ser
XM_006712040.1:c.3409C>T XP_006712103.1:p.Pro1137Ser
XM_011532950.1:c.4186C>T XP_011531252.1:p.Pro1396Ser
XM_011532951.1:c.4015C>T XP_011531253.1:p.Pro1339Ser
NM_018263.5:c.4189C>T NP_060733.4:p.Pro1397Ser
XM_006712039.3:c.3823C>T XP_006712102.1:p.Pro1275Ser
XM_006712040.2:c.3409C>T XP_006712103.1:p.Pro1137Ser
XM_011532950.3:c.4186C>T XP_011531252.1:p.Pro1396Ser
XM_011532951.2:c.4015C>T XP_011531253.1:p.Pro1339Ser
XM_017004430.1:c.3409C>T XP_016859919.1:p.Pro1137Ser
XM_024452974.1:c.4369C>T XP_024308742.1:p.Pro1457Ser
NM_001369346.1:c.4015C>T NP_001356275.1:p.Pro1339Ser
NM_001369347.1:c.3409C>T NP_001356276.1:p.Pro1137Ser
NM_018263.6:c.4189C>T MANE Select NP_060733.4:p.Pro1397Ser