Canonical Allele Identifier: CA420178468
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311111T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768490T>G , CM000663.2:g.115768490T>G GRCh38
NC_000001.10:g.116311111T>G , CM000663.1:g.116311111T>G GRCh37
NC_000001.9:g.116112634T>G NCBI36
NG_008802.1:g.5316A>C , LRG_404:g.5316A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-2A>C ENSP00000518226.1:n.-223-2A>C
ENST00000261448.6:c.52A>C MANE Select ENSP00000261448.5:p.Arg18=
ENST00000261448.5:c.52A>C ENSP00000261448.5:p.Arg18=
NM_001232.3:c.52A>C , LRG_404t1:c.52A>C NP_001223.2:p.Arg18=
NM_001232.4:c.52A>C MANE Select NP_001223.2:p.Arg18=
Search 100 bp 5'
Search 100 bp 3'