Canonical Allele Identifier: CA546538319

Gene: CLSTN2

Linked Data

• dbSNP Id: rs1215959921
• gnomAD v2: 3-140247238-ACT-A
• MyVariant Identifiers: chr3:g.140247239_140247240del (hg19) ; chr3:g.140528397_140528398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140528399_140528400del , CM000665.2:g.140528399_140528400del	GRCh38
NC_000003.11:g.140247241_140247242del , CM000665.1:g.140247241_140247242del	GRCh37
NC_000003.10:g.141729931_141729932del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458420.7:c.1345-3925_1345-3924del MANE Select	ENSP00000402460.2:n.1345-3925_1345-3924del
ENST00000511524.1:n.1533-3925_1533-3924del
ENST00000620185.1:c.1153-3925_1153-3924del	ENSP00000478883.1:n.1153-3925_1153-3924del
NM_022131.2:c.1345-3925_1345-3924del	NP_071414.2:n.1345-3925_1345-3924del
XM_017007022.2:c.1270-3925_1270-3924del	XP_016862511.1:n.1270-3925_1270-3924del
NM_022131.3:c.1345-3925_1345-3924del MANE Select	NP_071414.2:n.1345-3925_1345-3924del