Canonical Allele Identifier: CA1190742455
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768275G= , CM000663.2:g.115768275G= GRCh38
NC_000001.10:g.116310896G= , CM000663.1:g.116310896G= GRCh37
NC_000001.9:g.116112419G= NCBI36
NG_008802.1:g.5531C= , LRG_404:g.5531C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+33C= ENSP00000518226.1:n.-43+33C=
ENST00000261448.6:c.234+33C= MANE Select ENSP00000261448.5:n.234+33C=
ENST00000261448.5:c.234+33C= ENSP00000261448.5:n.234+33C=
NM_001232.3:c.234+33C= , LRG_404t1:c.234+33C= NP_001223.2:n.234+33C=
NM_001232.4:c.234+33C= MANE Select NP_001223.2:n.234+33C=
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