Canonical Allele Identifier: CA2758651624
Gene: CLSTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528403C>T , CM000665.2:g.140528403C>T GRCh38
NC_000003.11:g.140247245C>T , CM000665.1:g.140247245C>T GRCh37
NC_000003.10:g.141729935C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-3921C>T MANE Select ENSP00000402460.2:n.1345-3921C>T
ENST00000511524.1:n.1533-3921C>T
ENST00000620185.1:c.1153-3921C>T ENSP00000478883.1:n.1153-3921C>T
NM_022131.2:c.1345-3921C>T NP_071414.2:n.1345-3921C>T
XM_017007022.2:c.1270-3921C>T XP_016862511.1:n.1270-3921C>T
NM_022131.3:c.1345-3921C>T MANE Select NP_071414.2:n.1345-3921C>T