Canonical Allele Identifier: CA1023895

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 532351
• ClinVar RCV Id: RCV002343258 ; RCV002483824 ; RCV002529912 ; RCV003338704
• dbSNP Id: rs72554062
• ExAC: 1:116280886 T / C
• gnomAD v2: 1-116280886-T-C
• gnomAD v3: 1-115738265-T-C
• gnomAD v4: 1-115738265-T-C
• MyVariant Identifiers: chr1:g.116280886T>C (hg19) ; chr1:g.115738265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738265T>C , CM000663.2:g.115738265T>C	GRCh38
NC_000001.10:g.116280886T>C , CM000663.1:g.116280886T>C	GRCh37
NC_000001.9:g.116082409T>C	NCBI36
NG_008802.1:g.35541A>G , LRG_404:g.35541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.215A>G	ENSP00000518226.1:p.Tyr72Cys
ENST00000261448.6:c.491A>G MANE Select	ENSP00000261448.5:p.Tyr164Cys
ENST00000261448.5:c.491A>G	ENSP00000261448.5:p.Tyr164Cys
NM_001232.3:c.491A>G , LRG_404t1:c.491A>G	NP_001223.2:p.Tyr164Cys
NM_001232.4:c.491A>G MANE Select	NP_001223.2:p.Tyr164Cys