Canonical Allele Identifier: CA390174847
Community Standard Title: NM_015346.4(ZFYVE26):c.2248+2T>C
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67798012A>G , CM000676.2:g.67798012A>G GRCh38
NC_000014.8:g.68264729A>G , CM000676.1:g.68264729A>G GRCh37
NC_000014.7:g.67334482A>G NCBI36
NG_011836.1:g.23578T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.2248+2T>C MANE Select NP_056161.2:n.2248+2T>C
ENST00000347230.9:c.2248+2T>C MANE Select ENSP00000251119.5:n.2248+2T>C
NM_015346.3:c.2248+2T>C NP_056161.2:n.2248+2T>C
ENST00000347230.8:c.2248+2T>C ENSP00000251119.5:n.2248+2T>C
ENST00000554523.5:n.2385+2T>C
ENST00000554557.5:c.*545+2T>C ENSP00000450431.1:n.*545+2T>C
ENST00000555452.1:c.2248+2T>C ENSP00000450603.1:n.2248+2T>C
ENST00000557366.5:n.2294+2T>C
ENST00000557407.1:n.2383+2T>C
ENST00000676512.1:c.2248+2T>C ENSP00000504552.1:n.2248+2T>C
ENST00000676620.1:c.2248+2T>C ENSP00000504587.1:n.2248+2T>C
ENST00000677026.1:c.2044+2T>C ENSP00000503710.1:n.2044+2T>C
ENST00000678382.1:c.*1243+2T>C ENSP00000504130.1:n.*1243+2T>C
ENST00000678386.1:c.2248+2T>C ENSP00000503677.1:n.2248+2T>C
XM_006720093.2:c.2248+2T>C XP_006720156.1:n.2248+2T>C
XM_011536606.1:c.739+2T>C XP_011534908.1:n.739+2T>C
XM_011536609.1:c.2248+2T>C XP_011534911.1:n.2248+2T>C
XM_011536609.2:c.2248+2T>C XP_011534911.1:n.2248+2T>C
XM_017021124.1:c.2248+2T>C XP_016876613.1:n.2248+2T>C
XM_017021125.1:c.2248+2T>C XP_016876614.1:n.2248+2T>C
XM_017021126.1:c.739+2T>C XP_016876615.1:n.739+2T>C