Canonical Allele Identifier: CA631301786
Community Standard Title: NM_005883.3(APC2):c.717+5C>T
Gene: APC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1456158C>T , CM000681.2:g.1456158C>T GRCh38
NC_000019.9:g.1456157C>T , CM000681.1:g.1456157C>T GRCh37
NC_000019.8:g.1407157C>T NCBI36
NG_055243.1:g.14891C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005883.3:c.717+5C>T MANE Select NP_005874.1:n.717+5C>T
ENST00000590469.6:c.717+5C>T MANE Select ENSP00000467073.2:n.717+5C>T
NM_001351273.1:c.714+5C>T NP_001338202.1:n.714+5C>T
NM_005883.2:c.717+5C>T NP_005874.1:n.717+5C>T
ENST00000233607.6:c.717+5C>T ENSP00000233607.2:n.717+5C>T
ENST00000238483.5:c.714+5C>T ENSP00000238483.5:n.714+5C>T
ENST00000535453.5:c.717+5C>T ENSP00000442954.1:n.717+5C>T
ENST00000590469.5:c.717+5C>T ENSP00000467073.1:n.717+5C>T
ENST00000593146.1:n.776+5C>T
XM_005259475.2:c.789+5C>T XP_005259532.1:n.789+5C>T
XM_006722607.2:c.786+5C>T XP_006722670.1:n.786+5C>T
XM_006722608.2:c.717+5C>T XP_006722671.1:n.717+5C>T
XM_006722608.3:c.1020+5C>T XP_006722671.2:n.1020+5C>T
XM_006722609.2:c.717+5C>T XP_006722672.1:n.717+5C>T
XM_006722609.3:c.717+5C>T XP_006722672.1:n.717+5C>T
XM_006722610.2:c.714+5C>T XP_006722673.1:n.714+5C>T
XM_006722610.3:c.1017+5C>T XP_006722673.2:n.1017+5C>T