Canonical Allele Identifier: CA341766783
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116247835A>T (hg19) chr1:g.115705214A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705214A>T , CM000663.2:g.115705214A>T GRCh38
NC_000001.10:g.116247835A>T , CM000663.1:g.116247835A>T GRCh37
NC_000001.9:g.116049358A>T NCBI36
NG_008802.1:g.68592T>A , LRG_404:g.68592T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*289T>A ENSP00000518226.1:n.*289T>A
ENST00000261448.6:c.917T>A MANE Select ENSP00000261448.5:p.Ile306Asn
ENST00000261448.5:c.917T>A ENSP00000261448.5:p.Ile306Asn
NM_001232.3:c.917T>A , LRG_404t1:c.917T>A NP_001223.2:p.Ile306Asn
NM_001232.4:c.917T>A MANE Select NP_001223.2:p.Ile306Asn
Search 100 bp 5'
Search 100 bp 3'