Canonical Allele Identifier: CA29625145

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 532348
• ClinVar RCV Id: RCV002529910 ; RCV003303018 ; RCV003338703
• dbSNP Id: rs866858282
• gnomAD v2: 1-116310988-G-A
• gnomAD v3: 1-115768367-G-A
• gnomAD v4: 1-115768367-G-A
• MyVariant Identifiers: chr1:g.116310988G>A (hg19) ; chr1:g.115768367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768367G>A , CM000663.2:g.115768367G>A	GRCh38
NC_000001.10:g.116310988G>A , CM000663.1:g.116310988G>A	GRCh37
NC_000001.9:g.116112511G>A	NCBI36
NG_008802.1:g.5439C>T , LRG_404:g.5439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-102C>T	ENSP00000518226.1:n.-102C>T
ENST00000261448.6:c.175C>T MANE Select	ENSP00000261448.5:p.Pro59Ser
ENST00000261448.5:c.175C>T	ENSP00000261448.5:p.Pro59Ser
NM_001232.3:c.175C>T , LRG_404t1:c.175C>T	NP_001223.2:p.Pro59Ser
NM_001232.4:c.175C>T MANE Select	NP_001223.2:p.Pro59Ser