Canonical Allele Identifier: CA1190711108
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703005C= , CM000663.2:g.115703005C= GRCh38
NC_000001.10:g.116245626C= , CM000663.1:g.116245626C= GRCh37
NC_000001.9:g.116047149C= NCBI36
NG_008802.1:g.70801G= , LRG_404:g.70801G=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-10G= ENSP00000518226.1:n.*312-10G=
ENST00000261448.6:c.940-10G= MANE Select ENSP00000261448.5:n.940-10G=
ENST00000261448.5:c.940-10G= ENSP00000261448.5:n.940-10G=
NM_001232.3:c.940-10G= , LRG_404t1:c.940-10G= NP_001223.2:n.940-10G=
NM_001232.4:c.940-10G= MANE Select NP_001223.2:n.940-10G=
Search 100 bp 5'
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