Canonical Allele Identifier: CA1023899

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 292132
• ClinVar RCV Id: RCV000413265 ; RCV001093859 ; RCV000763715 ; RCV002338869 ; RCV002522052 ; RCV003150158
• dbSNP Id: rs375598471
• ExAC: 1:116280902 C / T
• gnomAD v2: 1-116280902-C-T
• gnomAD v3: 1-115738281-C-T
• gnomAD v4: 1-115738281-C-T
• COSMIC: COSM177354
• MyVariant Identifiers: chr1:g.116280902C>T (hg19) ; chr1:g.115738281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738281C>T , CM000663.2:g.115738281C>T	GRCh38
NC_000001.10:g.116280902C>T , CM000663.1:g.116280902C>T	GRCh37
NC_000001.9:g.116082425C>T	NCBI36
NG_008802.1:g.35525G>A , LRG_404:g.35525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.199G>A	ENSP00000518226.1:p.Glu67Lys
ENST00000261448.6:c.475G>A MANE Select	ENSP00000261448.5:p.Glu159Lys
ENST00000261448.5:c.475G>A	ENSP00000261448.5:p.Glu159Lys
NM_001232.3:c.475G>A , LRG_404t1:c.475G>A	NP_001223.2:p.Glu159Lys
NM_001232.4:c.475G>A MANE Select	NP_001223.2:p.Glu159Lys