Canonical Allele Identifier: CA29603579
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs372283956
gnomAD v2: 1-116280898-C-A
gnomAD v4: 1-115738277-C-A
COSMIC: COSM675162
MyVariant Identifiers: chr1:g.116280898C>A (hg19) chr1:g.115738277C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738277C>A , CM000663.2:g.115738277C>A GRCh38
NC_000001.10:g.116280898C>A , CM000663.1:g.116280898C>A GRCh37
NC_000001.9:g.116082421C>A NCBI36
NG_008802.1:g.35529G>T , LRG_404:g.35529G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.203G>T ENSP00000518226.1:p.Arg68Leu
ENST00000261448.6:c.479G>T MANE Select ENSP00000261448.5:p.Arg160Leu
ENST00000261448.5:c.479G>T ENSP00000261448.5:p.Arg160Leu
NM_001232.3:c.479G>T , LRG_404t1:c.479G>T NP_001223.2:p.Arg160Leu
NM_001232.4:c.479G>T MANE Select NP_001223.2:p.Arg160Leu
Search 100 bp 5'
Search 100 bp 3'