Canonical Allele Identifier: CA9045112
Community Standard Title: NM_005883.3(APC2):c.1465G>A (p.Gly489Ser)
Gene: APC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1460801G>A , CM000681.2:g.1460801G>A GRCh38
NC_000019.9:g.1460800G>A , CM000681.1:g.1460800G>A GRCh37
NC_000019.8:g.1411800G>A NCBI36
NG_055243.1:g.19534G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005883.3:c.1465G>A MANE Select NP_005874.1:p.Gly489Ser
ENST00000590469.6:c.1465G>A MANE Select ENSP00000467073.2:p.Gly489Ser
NM_001351273.1:c.1462G>A NP_001338202.1:p.Gly488Ser
NM_005883.2:c.1465G>A NP_005874.1:p.Gly489Ser
ENST00000233607.6:c.1465G>A ENSP00000233607.2:p.Gly489Ser
ENST00000238483.5:c.1462G>A ENSP00000238483.5:p.Gly488Ser
ENST00000535453.5:c.1465G>A ENSP00000442954.1:p.Gly489Ser
ENST00000590469.5:c.1465G>A ENSP00000467073.1:p.Gly489Ser
ENST00000593146.1:n.2245G>A
XM_005259475.2:c.1537G>A XP_005259532.1:p.Gly513Ser
XM_006722607.2:c.1534G>A XP_006722670.1:p.Gly512Ser
XM_006722608.2:c.1465G>A XP_006722671.1:p.Gly489Ser
XM_006722608.3:c.1768G>A XP_006722671.2:p.Gly590Ser
XM_006722609.2:c.1465G>A XP_006722672.1:p.Gly489Ser
XM_006722609.3:c.1465G>A XP_006722672.1:p.Gly489Ser
XM_006722610.2:c.1462G>A XP_006722673.1:p.Gly488Ser
XM_006722610.3:c.1765G>A XP_006722673.2:p.Gly589Ser