Canonical Allele Identifier: CA10586707

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 257651
• ClinVar RCV Id: RCV000241627 ; RCV003338484 ; RCV003380531 ; RCV003525889
• dbSNP Id: rs886038422
• gnomAD v2: 1-116280885-G-A
• gnomAD v3: 1-115738264-G-A
• gnomAD v4: 1-115738264-G-A
• MyVariant Identifiers: chr1:g.116280885G>A (hg19) ; chr1:g.115738264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738264G>A , CM000663.2:g.115738264G>A	GRCh38
NC_000001.10:g.116280885G>A , CM000663.1:g.116280885G>A	GRCh37
NC_000001.9:g.116082408G>A	NCBI36
NG_008802.1:g.35542C>T , LRG_404:g.35542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.216C>T	ENSP00000518226.1:p.Tyr72=
ENST00000261448.6:c.492C>T MANE Select	ENSP00000261448.5:p.Tyr164=
ENST00000261448.5:c.492C>T	ENSP00000261448.5:p.Tyr164=
NM_001232.3:c.492C>T , LRG_404t1:c.492C>T	NP_001223.2:p.Tyr164=
NM_001232.4:c.492C>T MANE Select	NP_001223.2:p.Tyr164=