Canonical Allele Identifier: CA29625145
Gene: CASQ2 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'