Canonical Allele Identifier: CA2758651619
Gene: CLSTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528370T>C , CM000665.2:g.140528370T>C GRCh38
NC_000003.11:g.140247212T>C , CM000665.1:g.140247212T>C GRCh37
NC_000003.10:g.141729902T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-3954T>C MANE Select ENSP00000402460.2:n.1345-3954T>C
ENST00000511524.1:n.1533-3954T>C
ENST00000620185.1:c.1153-3954T>C ENSP00000478883.1:n.1153-3954T>C
NM_022131.2:c.1345-3954T>C NP_071414.2:n.1345-3954T>C
XM_017007022.2:c.1270-3954T>C XP_016862511.1:n.1270-3954T>C
NM_022131.3:c.1345-3954T>C MANE Select NP_071414.2:n.1345-3954T>C