Canonical Allele Identifier: CA181171

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 178010
• ClinVar RCV Id: RCV000154689 ; RCV001798501 ; RCV002514972 ; RCV001697147 ; RCV003338430 ; RCV002345497
• dbSNP Id: rs72554057
• ExAC: 1:116275588 C / T
• gnomAD v2: 1-116275588-C-T
• gnomAD v3: 1-115732967-C-T
• gnomAD v4: 1-115732967-C-T
• MyVariant Identifiers: chr1:g.116275588C>T (hg19) ; chr1:g.115732967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732967C>T , CM000663.2:g.115732967C>T	GRCh38
NC_000001.10:g.116275588C>T , CM000663.1:g.116275588C>T	GRCh37
NC_000001.9:g.116077111C>T	NCBI36
NG_008802.1:g.40839G>A , LRG_404:g.40839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.264G>A	ENSP00000518226.1:p.Lys88=
ENST00000261448.6:c.540G>A MANE Select	ENSP00000261448.5:p.Lys180=
ENST00000261448.5:c.540G>A	ENSP00000261448.5:p.Lys180=
NM_001232.3:c.540G>A , LRG_404t1:c.540G>A	NP_001223.2:p.Lys180=
NM_001232.4:c.540G>A MANE Select	NP_001223.2:p.Lys180=