Canonical Allele Identifier: CA1054200464
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs1338442207
gnomAD v3: 3-140528247-A-C
gnomAD v4: 3-140528247-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528247A>C , CM000665.2:g.140528247A>C GRCh38
NC_000003.11:g.140247089A>C , CM000665.1:g.140247089A>C GRCh37
NC_000003.10:g.141729779A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-4077A>C MANE Select ENSP00000402460.2:n.1345-4077A>C
ENST00000511524.1:n.1533-4077A>C
ENST00000620185.1:c.1153-4077A>C ENSP00000478883.1:n.1153-4077A>C
NM_022131.2:c.1345-4077A>C NP_071414.2:n.1345-4077A>C
XM_017007022.2:c.1270-4077A>C XP_016862511.1:n.1270-4077A>C
NM_022131.3:c.1345-4077A>C MANE Select NP_071414.2:n.1345-4077A>C
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