Canonical Allele Identifier: CA1023814

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 227210
• ClinVar RCV Id: RCV000249385 ; RCV001001284 ; RCV000222224
• dbSNP Id: rs142036299
• ExAC: 1:116269620 G / A
• gnomAD v2: 1-116269620-G-A
• gnomAD v3: 1-115726999-G-A
• gnomAD v4: 1-115726999-G-A
• MyVariant Identifiers: chr1:g.116269620G>A (hg19) ; chr1:g.115726999G>A (hg38)
• PubMed: PMID:20530761 ; PMID:27930701

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115726999G>A , CM000663.2:g.115726999G>A	GRCh38
NC_000001.10:g.116269620G>A , CM000663.1:g.116269620G>A	GRCh37
NC_000001.9:g.116071143G>A	NCBI36
NG_008802.1:g.46807C>T , LRG_404:g.46807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.*102C>T	ENSP00000518226.1:n.*102C>T
ENST00000261448.6:c.730C>T MANE Select	ENSP00000261448.5:p.His244Tyr
ENST00000261448.5:c.730C>T	ENSP00000261448.5:p.His244Tyr
NM_001232.3:c.730C>T , LRG_404t1:c.730C>T	NP_001223.2:p.His244Tyr
NM_001232.4:c.730C>T MANE Select	NP_001223.2:p.His244Tyr