Canonical Allele Identifier: CA1190715913
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700691G= , CM000663.2:g.115700691G= GRCh38
NC_000001.10:g.116243312G= , CM000663.1:g.116243312G= GRCh37
NC_000001.9:g.116044835G= NCBI36
NG_008802.1:g.73115C= , LRG_404:g.73115C=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1122C= ENSP00000518226.1:n.*1122C=
ENST00000261448.6:c.*550C= MANE Select ENSP00000261448.5:n.*550C=
ENST00000261448.5:c.*550C= ENSP00000261448.5:n.*550C=
NM_001232.3:c.*550C= , LRG_404t1:c.*550C= NP_001223.2:n.*550C=
NM_001232.4:c.*550C= MANE Select NP_001223.2:n.*550C=
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