Canonical Allele Identifier: CA2647283064
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115732754-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732754T>G , CM000663.2:g.115732754T>G GRCh38
NC_000001.10:g.116275375T>G , CM000663.1:g.116275375T>G GRCh37
NC_000001.9:g.116076898T>G NCBI36
NG_008802.1:g.41052A>C , LRG_404:g.41052A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+147A>C ENSP00000518226.1:n.330+147A>C
ENST00000261448.6:c.606+147A>C MANE Select ENSP00000261448.5:n.606+147A>C
ENST00000261448.5:c.606+147A>C ENSP00000261448.5:n.606+147A>C
ENST00000488931.1:n.27+147A>C
NM_001232.3:c.606+147A>C , LRG_404t1:c.606+147A>C NP_001223.2:n.606+147A>C
NM_001232.4:c.606+147A>C MANE Select NP_001223.2:n.606+147A>C
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