Canonical Allele Identifier: CA420178426
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1119574
ClinVar RCV Id: RCV002557513
dbSNP Id: rs571353035
MyVariant Identifiers: chr1:g.116311049G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768428G>T , CM000663.2:g.115768428G>T GRCh38
NC_000001.10:g.116311049G>T , CM000663.1:g.116311049G>T GRCh37
NC_000001.9:g.116112572G>T NCBI36
NG_008802.1:g.5378C>A , LRG_404:g.5378C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-163C>A ENSP00000518226.1:n.-163C>A
ENST00000261448.6:c.114C>A MANE Select ENSP00000261448.5:p.Ser38=
ENST00000261448.5:c.114C>A ENSP00000261448.5:p.Ser38=
NM_001232.3:c.114C>A , LRG_404t1:c.114C>A NP_001223.2:p.Ser38=
NM_001232.4:c.114C>A MANE Select NP_001223.2:p.Ser38=
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