Canonical Allele Identifier: CA1190715903
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1570791231
gnomAD v4: 1-115700678-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700678T>C , CM000663.2:g.115700678T>C GRCh38
NC_000001.10:g.116243299T>C , CM000663.1:g.116243299T>C GRCh37
NC_000001.9:g.116044822T>C NCBI36
NG_008802.1:g.73128A>G , LRG_404:g.73128A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1135A>G ENSP00000518226.1:n.*1135A>G
ENST00000261448.6:c.*563A>G MANE Select ENSP00000261448.5:n.*563A>G
ENST00000261448.5:c.*563A>G ENSP00000261448.5:n.*563A>G
NM_001232.3:c.*563A>G , LRG_404t1:c.*563A>G NP_001223.2:n.*563A>G
NM_001232.4:c.*563A>G MANE Select NP_001223.2:n.*563A>G
Search 100 bp 5'
Search 100 bp 3'