Canonical Allele Identifier: CA1023852

Gene: CASQ2

Linked Data

• dbSNP Id: rs144118950
• ExAC: 1:116275500 T / C
• gnomAD v2: 1-116275500-T-C
• gnomAD v3: 1-115732879-T-C
• gnomAD v4: 1-115732879-T-C
• MyVariant Identifiers: chr1:g.116275500T>C (hg19) ; chr1:g.115732879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732879T>C , CM000663.2:g.115732879T>C	GRCh38
NC_000001.10:g.116275500T>C , CM000663.1:g.116275500T>C	GRCh37
NC_000001.9:g.116077023T>C	NCBI36
NG_008802.1:g.40927A>G , LRG_404:g.40927A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+22A>G	ENSP00000518226.1:n.330+22A>G
ENST00000261448.6:c.606+22A>G MANE Select	ENSP00000261448.5:n.606+22A>G
ENST00000261448.5:c.606+22A>G	ENSP00000261448.5:n.606+22A>G
ENST00000488931.1:n.27+22A>G
NM_001232.3:c.606+22A>G , LRG_404t1:c.606+22A>G	NP_001223.2:n.606+22A>G
NM_001232.4:c.606+22A>G MANE Select	NP_001223.2:n.606+22A>G