Canonical Allele Identifier: CA2647256703
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700663-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700663G>C , CM000663.2:g.115700663G>C GRCh38
NC_000001.10:g.116243284G>C , CM000663.1:g.116243284G>C GRCh37
NC_000001.9:g.116044807G>C NCBI36
NG_008802.1:g.73143C>G , LRG_404:g.73143C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1150C>G ENSP00000518226.1:n.*1150C>G
ENST00000261448.6:c.*578C>G MANE Select ENSP00000261448.5:n.*578C>G
ENST00000261448.5:c.*578C>G ENSP00000261448.5:n.*578C>G
NM_001232.3:c.*578C>G , LRG_404t1:c.*578C>G NP_001223.2:n.*578C>G
NM_001232.4:c.*578C>G MANE Select NP_001223.2:n.*578C>G
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