Canonical Allele Identifier: CA1006065931
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1654179076
gnomAD v3: 1-115700705-A-G
gnomAD v4: 1-115700705-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700705A>G , CM000663.2:g.115700705A>G GRCh38
NC_000001.10:g.116243326A>G , CM000663.1:g.116243326A>G GRCh37
NC_000001.9:g.116044849A>G NCBI36
NG_008802.1:g.73101T>C , LRG_404:g.73101T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1108T>C ENSP00000518226.1:n.*1108T>C
ENST00000261448.6:c.*536T>C MANE Select ENSP00000261448.5:n.*536T>C
ENST00000261448.5:c.*536T>C ENSP00000261448.5:n.*536T>C
NM_001232.3:c.*536T>C , LRG_404t1:c.*536T>C NP_001223.2:n.*536T>C
NM_001232.4:c.*536T>C MANE Select NP_001223.2:n.*536T>C
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