Canonical Allele Identifier: CA10607596
Gene: CASQ2 HGNC NCBI
ClinVar RCV:
RCV000264813
RCV000272946
RCV001100356
RCV002469120
ClinVar Variation:
292122
dbSNP:
7521023
gnomAD v2:
1:116243380 G / A
gnomAD v3:
1:115700759 G / A
gnomAD v4:
chr1-115700759-G-A
Joint Max Group AF 0.71119498 (AFR)
Genomes Max Group AF 0.71088018 (AFR)
Exomes Max Group AF 0.70782163 (EAS)
MyVariant.info:
GRCh38 chr1:g.115700759G>A
GRCh37 chr1:g.116243380G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700759G>A , CM000663.2:g.115700759G>A GRCh38
NC_000001.10:g.116243380G>A , CM000663.1:g.116243380G>A GRCh37
NC_000001.9:g.116044903G>A NCBI36
NG_008802.1:g.73047C>T , LRG_404:g.73047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1054C>T ENSP00000518226.1:n.*1054C>T
ENST00000261448.6:c.*482C>T MANE Select ENSP00000261448.5:n.*482C>T
ENST00000261448.5:c.*482C>T ENSP00000261448.5:n.*482C>T
NM_001232.3:c.*482C>T , LRG_404t1:c.*482C>T NP_001223.2:n.*482C>T
NM_001232.4:c.*482C>T MANE Select NP_001223.2:n.*482C>T
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