Canonical Allele Identifier: CA2499214127
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1292386
ClinVar RCV Id: RCV001714423
dbSNP Id: rs779306896
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768561T>C , CM000663.2:g.115768561T>C GRCh38
NC_000001.10:g.116311182T>C , CM000663.1:g.116311182T>C GRCh37
NC_000001.9:g.116112705T>C NCBI36
NG_008802.1:g.5245A>G , LRG_404:g.5245A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-73A>G ENSP00000518226.1:n.-223-73A>G
ENST00000261448.6:c.-20A>G MANE Select ENSP00000261448.5:n.-20A>G
ENST00000261448.5:c.-20A>G ENSP00000261448.5:n.-20A>G
NM_001232.3:c.-20A>G , LRG_404t1:c.-20A>G NP_001223.2:n.-20A>G
NM_001232.4:c.-20A>G MANE Select NP_001223.2:n.-20A>G
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