Canonical Allele Identifier: CA84592757

Gene: CLSTN2

Linked Data

• dbSNP Id: rs168387
• gnomAD v2: 3-140247073-C-T
• gnomAD v3: 3-140528231-C-T
• gnomAD v4: 3-140528231-C-T
• MyVariant Identifiers: chr3:g.140247073C>T (hg19) ; chr3:g.140528231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140528231C>T , CM000665.2:g.140528231C>T	GRCh38
NC_000003.11:g.140247073C>T , CM000665.1:g.140247073C>T	GRCh37
NC_000003.10:g.141729763C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458420.7:c.1345-4093C>T MANE Select	ENSP00000402460.2:n.1345-4093C>T
ENST00000511524.1:n.1533-4093C>T
ENST00000620185.1:c.1153-4093C>T	ENSP00000478883.1:n.1153-4093C>T
NM_022131.2:c.1345-4093C>T	NP_071414.2:n.1345-4093C>T
XM_017007022.2:c.1270-4093C>T	XP_016862511.1:n.1270-4093C>T
NM_022131.3:c.1345-4093C>T MANE Select	NP_071414.2:n.1345-4093C>T