Canonical Allele Identifier: CA133688
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44153
ClinVar RCV Id: RCV001534893 RCV002468988 RCV002513459
dbSNP Id: rs77775029
ExAC: 1:116245533 G / A
gnomAD v2: 1-116245533-G-A
gnomAD v3: 1-115702912-G-A
gnomAD v4: 1-115702912-G-A
MyVariant Identifiers: chr1:g.116245533G>A (hg19) chr1:g.115702912G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115702912G>A , CM000663.2:g.115702912G>A GRCh38
NC_000001.10:g.116245533G>A , CM000663.1:g.116245533G>A GRCh37
NC_000001.9:g.116047056G>A NCBI36
NG_008802.1:g.70894C>T , LRG_404:g.70894C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*386+9C>T ENSP00000518226.1:n.*386+9C>T
ENST00000261448.6:c.1014+9C>T MANE Select ENSP00000261448.5:n.1014+9C>T
ENST00000261448.5:c.1014+9C>T ENSP00000261448.5:n.1014+9C>T
NM_001232.3:c.1014+9C>T , LRG_404t1:c.1014+9C>T NP_001223.2:n.1014+9C>T
NM_001232.4:c.1014+9C>T MANE Select NP_001223.2:n.1014+9C>T
Search 100 bp 5'
Search 100 bp 3'