Canonical Allele Identifier: CA1190715999
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1570791321
gnomAD v4: 1-115700788-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700788T>G , CM000663.2:g.115700788T>G GRCh38
NC_000001.10:g.116243409T>G , CM000663.1:g.116243409T>G GRCh37
NC_000001.9:g.116044932T>G NCBI36
NG_008802.1:g.73018A>C , LRG_404:g.73018A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1025A>C ENSP00000518226.1:n.*1025A>C
ENST00000261448.6:c.*453A>C MANE Select ENSP00000261448.5:n.*453A>C
ENST00000261448.5:c.*453A>C ENSP00000261448.5:n.*453A>C
NM_001232.3:c.*453A>C , LRG_404t1:c.*453A>C NP_001223.2:n.*453A>C
NM_001232.4:c.*453A>C MANE Select NP_001223.2:n.*453A>C
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