Canonical Allele Identifier: CA1023902
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 699317
ClinVar RCV Id: RCV002332799 RCV002536754 RCV003338832
dbSNP Id: rs754879716
ExAC: 1:116280903 G / A
gnomAD v2: 1-116280903-G-A
gnomAD v3: 1-115738282-G-A
gnomAD v4: 1-115738282-G-A
COSMIC: COSM4669406
MyVariant Identifiers: chr1:g.116280903G>A (hg19) chr1:g.115738282G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738282G>A , CM000663.2:g.115738282G>A GRCh38
NC_000001.10:g.116280903G>A , CM000663.1:g.116280903G>A GRCh37
NC_000001.9:g.116082426G>A NCBI36
NG_008802.1:g.35524C>T , LRG_404:g.35524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.198C>T ENSP00000518226.1:p.Phe66=
ENST00000261448.6:c.474C>T MANE Select ENSP00000261448.5:p.Phe158=
ENST00000261448.5:c.474C>T ENSP00000261448.5:p.Phe158=
NM_001232.3:c.474C>T , LRG_404t1:c.474C>T NP_001223.2:p.Phe158=
NM_001232.4:c.474C>T MANE Select NP_001223.2:p.Phe158=
Search 100 bp 5'
Search 100 bp 3'