Canonical Allele Identifier: CA213014
Community Standard Title: NM_004523.4(KIF11):c.2547+2T>C
Gene: KIF11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.92645644T>C , CM000672.2:g.92645644T>C GRCh38
NC_000010.10:g.94405401T>C , CM000672.1:g.94405401T>C GRCh37
NC_000010.9:g.94395381T>C NCBI36
NG_032580.1:g.57577T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004523.4:c.2547+2T>C MANE Select NP_004514.2:n.2547+2T>C
ENST00000260731.5:c.2547+2T>C MANE Select ENSP00000260731.3:n.2547+2T>C
NM_004523.3:c.2547+2T>C NP_004514.2:n.2547+2T>C
ENST00000260731.4:c.2547+2T>C ENSP00000260731.3:n.2547+2T>C
ENST00000676621.1:c.*1065+2T>C ENSP00000503639.1:n.*1065+2T>C
ENST00000676647.1:c.2340+2T>C ENSP00000503394.1:n.2340+2T>C
ENST00000676757.1:c.2340+2T>C ENSP00000504289.1:n.2340+2T>C
ENST00000677720.1:c.*521+2T>C ENSP00000504840.1:n.*521+2T>C