Canonical Allele Identifier: CA390157635
Community Standard Title: NM_015346.4(ZFYVE26):c.7416+2T>C
Gene: ZFYVE26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67751050A>G , CM000676.2:g.67751050A>G GRCh38
NC_000014.8:g.68217767A>G , CM000676.1:g.68217767A>G GRCh37
NC_000014.7:g.67287520A>G NCBI36
NG_011836.1:g.70540T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015346.4:c.7416+2T>C MANE Select NP_056161.2:n.7416+2T>C
ENST00000347230.9:c.7416+2T>C MANE Select ENSP00000251119.5:n.7416+2T>C
NM_015346.3:c.7416+2T>C NP_056161.2:n.7416+2T>C
ENST00000347230.8:c.7416+2T>C ENSP00000251119.5:n.7416+2T>C
ENST00000394455.6:n.2679+2T>C
ENST00000554523.5:n.8171+2T>C
ENST00000554557.5:c.*5394+2T>C ENSP00000450431.1:n.*5394+2T>C
ENST00000557306.1:c.956T>C ENSP00000452142.1:p.Val319Ala
ENST00000676512.1:c.7434+2T>C ENSP00000504552.1:n.7434+2T>C
ENST00000676620.1:c.7338+2T>C ENSP00000504587.1:n.7338+2T>C
ENST00000678386.1:c.7461+2T>C ENSP00000503677.1:n.7461+2T>C
XM_006720093.2:c.7416+2T>C XP_006720156.1:n.7416+2T>C
XM_011536606.1:c.5907+2T>C XP_011534908.1:n.5907+2T>C
XM_011536607.1:c.5091+2T>C XP_011534909.1:n.5091+2T>C
XM_011536608.1:c.4998+2T>C XP_011534910.1:n.4998+2T>C
XM_017021124.1:c.7434+2T>C XP_016876613.1:n.7434+2T>C
XM_017021125.1:c.7434+2T>C XP_016876614.1:n.7434+2T>C
XM_017021126.1:c.5925+2T>C XP_016876615.1:n.5925+2T>C
XM_017021127.2:c.5109+2T>C XP_016876616.1:n.5109+2T>C
XM_017021128.1:c.5016+2T>C XP_016876617.1:n.5016+2T>C