Canonical Allele Identifier: CA341763877
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280888G>T (hg19) chr1:g.115738267G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738267G>T , CM000663.2:g.115738267G>T GRCh38
NC_000001.10:g.116280888G>T , CM000663.1:g.116280888G>T GRCh37
NC_000001.9:g.116082411G>T NCBI36
NG_008802.1:g.35539C>A , LRG_404:g.35539C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.213C>A ENSP00000518226.1:p.Asp71Glu
ENST00000261448.6:c.489C>A MANE Select ENSP00000261448.5:p.Asp163Glu
ENST00000261448.5:c.489C>A ENSP00000261448.5:p.Asp163Glu
NM_001232.3:c.489C>A , LRG_404t1:c.489C>A NP_001223.2:p.Asp163Glu
NM_001232.4:c.489C>A MANE Select NP_001223.2:p.Asp163Glu
Search 100 bp 5'
Search 100 bp 3'