Canonical Allele Identifier: CA301925

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 41043
• ClinVar RCV Id: RCV002496508 ; RCV002513332 ; RCV003318336
• dbSNP Id: rs397507556
• ExAC: 1:116311066 G / A
• gnomAD v2: 1-116311066-G-A
• gnomAD v4: 1-115768445-G-A
• MyVariant Identifiers: chr1:g.116311066G>A (hg19) ; chr1:g.115768445G>A (hg38)
• PubMed: PMID:20301466

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768445G>A , CM000663.2:g.115768445G>A	GRCh38
NC_000001.10:g.116311066G>A , CM000663.1:g.116311066G>A	GRCh37
NC_000001.9:g.116112589G>A	NCBI36
NG_008802.1:g.5361C>T , LRG_404:g.5361C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.-180C>T	ENSP00000518226.1:n.-180C>T
ENST00000261448.6:c.97C>T MANE Select	ENSP00000261448.5:p.Arg33Ter
ENST00000261448.5:c.97C>T	ENSP00000261448.5:p.Arg33Ter
NM_001232.3:c.97C>T , LRG_404t1:c.97C>T	NP_001223.2:p.Arg33Ter
NM_001232.4:c.97C>T MANE Select	NP_001223.2:p.Arg33Ter