Canonical Allele Identifier: CA29605090
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1039829915
gnomAD v3: 1-115700689-A-C
gnomAD v4: 1-115700689-A-C
MyVariant Identifiers: chr1:g.116243310A>C (hg19) chr1:g.115700689A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700689A>C , CM000663.2:g.115700689A>C GRCh38
NC_000001.10:g.116243310A>C , CM000663.1:g.116243310A>C GRCh37
NC_000001.9:g.116044833A>C NCBI36
NG_008802.1:g.73117T>G , LRG_404:g.73117T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1124T>G ENSP00000518226.1:n.*1124T>G
ENST00000261448.6:c.*552T>G MANE Select ENSP00000261448.5:n.*552T>G
ENST00000261448.5:c.*552T>G ENSP00000261448.5:n.*552T>G
NM_001232.3:c.*552T>G , LRG_404t1:c.*552T>G NP_001223.2:n.*552T>G
NM_001232.4:c.*552T>G MANE Select NP_001223.2:n.*552T>G
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