Canonical Allele Identifier: CA1023854

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 1674763
• ClinVar RCV Id: RCV003093833
• dbSNP Id: rs763932609
• ExAC: 1:116275510 A / G
• gnomAD v2: 1-116275510-A-G
• gnomAD v3: 1-115732889-A-G
• gnomAD v4: 1-115732889-A-G
• MyVariant Identifiers: chr1:g.116275510A>G (hg19) ; chr1:g.115732889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732889A>G , CM000663.2:g.115732889A>G	GRCh38
NC_000001.10:g.116275510A>G , CM000663.1:g.116275510A>G	GRCh37
NC_000001.9:g.116077033A>G	NCBI36
NG_008802.1:g.40917T>C , LRG_404:g.40917T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+12T>C	ENSP00000518226.1:n.330+12T>C
ENST00000261448.6:c.606+12T>C MANE Select	ENSP00000261448.5:n.606+12T>C
ENST00000261448.5:c.606+12T>C	ENSP00000261448.5:n.606+12T>C
ENST00000488931.1:n.27+12T>C
NM_001232.3:c.606+12T>C , LRG_404t1:c.606+12T>C	NP_001223.2:n.606+12T>C
NM_001232.4:c.606+12T>C MANE Select	NP_001223.2:n.606+12T>C