Canonical Allele Identifier: CA2739275186
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2805463
ClinVar RCV Id: RCV003639632
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703014A>G , CM000663.2:g.115703014A>G GRCh38
NC_000001.10:g.116245635A>G , CM000663.1:g.116245635A>G GRCh37
NC_000001.9:g.116047158A>G NCBI36
NG_008802.1:g.70792T>C , LRG_404:g.70792T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-19T>C ENSP00000518226.1:n.*312-19T>C
ENST00000261448.6:c.940-19T>C MANE Select ENSP00000261448.5:n.940-19T>C
ENST00000261448.5:c.940-19T>C ENSP00000261448.5:n.940-19T>C
NM_001232.3:c.940-19T>C , LRG_404t1:c.940-19T>C NP_001223.2:n.940-19T>C
NM_001232.4:c.940-19T>C MANE Select NP_001223.2:n.940-19T>C
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