Canonical Allele Identifier: CA2574037344
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115744819C>T , CM000663.2:g.115744819C>T GRCh38
NC_000001.10:g.116287440C>T , CM000663.1:g.116287440C>T GRCh37
NC_000001.9:g.116088963C>T NCBI36
NG_008802.1:g.28987G>A , LRG_404:g.28987G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.43+9G>A ENSP00000518226.1:n.43+9G>A
ENST00000261448.6:c.319+9G>A MANE Select ENSP00000261448.5:n.319+9G>A
ENST00000261448.5:c.319+9G>A ENSP00000261448.5:n.319+9G>A
NM_001232.3:c.319+9G>A , LRG_404t1:c.319+9G>A NP_001223.2:n.319+9G>A
NM_001232.4:c.319+9G>A MANE Select NP_001223.2:n.319+9G>A
Search 100 bp 5'
Search 100 bp 3'