Canonical Allele Identifier: CA419895493
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280894A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738273A>T , CM000663.2:g.115738273A>T GRCh38
NC_000001.10:g.116280894A>T , CM000663.1:g.116280894A>T GRCh37
NC_000001.9:g.116082417A>T NCBI36
NG_008802.1:g.35533T>A , LRG_404:g.35533T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.207T>A ENSP00000518226.1:p.Ile69=
ENST00000261448.6:c.483T>A MANE Select ENSP00000261448.5:p.Ile161=
ENST00000261448.5:c.483T>A ENSP00000261448.5:p.Ile161=
NM_001232.3:c.483T>A , LRG_404t1:c.483T>A NP_001223.2:p.Ile161=
NM_001232.4:c.483T>A MANE Select NP_001223.2:p.Ile161=
Search 100 bp 5'
Search 100 bp 3'