Canonical Allele Identifier: CA7240071
Community Standard Title: NM_015346.4(ZFYVE26):c.3139+2T>G
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67786112A>C , CM000676.2:g.67786112A>C GRCh38
NC_000014.8:g.68252829A>C , CM000676.1:g.68252829A>C GRCh37
NC_000014.7:g.67322582A>C NCBI36
NG_011836.1:g.35478T>G

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.3139+2T>G MANE Select NP_056161.2:n.3139+2T>G
ENST00000347230.9:c.3139+2T>G MANE Select ENSP00000251119.5:n.3139+2T>G
NM_015346.3:c.3139+2T>G NP_056161.2:n.3139+2T>G
ENST00000347230.8:c.3139+2T>G ENSP00000251119.5:n.3139+2T>G
ENST00000554523.5:n.3276+2T>G
ENST00000554557.5:c.*1436+2T>G ENSP00000450431.1:n.*1436+2T>G
ENST00000555452.1:c.3139+2T>G ENSP00000450603.1:n.3139+2T>G
ENST00000676512.1:c.3139+2T>G ENSP00000504552.1:n.3139+2T>G
ENST00000676620.1:c.3139+2T>G ENSP00000504587.1:n.3139+2T>G
ENST00000678386.1:c.3139+2T>G ENSP00000503677.1:n.3139+2T>G
XM_006720093.2:c.3139+2T>G XP_006720156.1:n.3139+2T>G
XM_011536606.1:c.1630+2T>G XP_011534908.1:n.1630+2T>G
XM_011536607.1:c.814+2T>G XP_011534909.1:n.814+2T>G
XM_011536608.1:c.721+2T>G XP_011534910.1:n.721+2T>G
XM_011536609.1:c.3139+2T>G XP_011534911.1:n.3139+2T>G
XM_011536609.2:c.3139+2T>G XP_011534911.1:n.3139+2T>G
XM_017021124.1:c.3139+2T>G XP_016876613.1:n.3139+2T>G
XM_017021125.1:c.3139+2T>G XP_016876614.1:n.3139+2T>G
XM_017021126.1:c.1630+2T>G XP_016876615.1:n.1630+2T>G
XM_017021127.2:c.814+2T>G XP_016876616.1:n.814+2T>G
XM_017021128.1:c.721+2T>G XP_016876617.1:n.721+2T>G