Canonical Allele Identifier: CA2647256716
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700692-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700692C>G , CM000663.2:g.115700692C>G GRCh38
NC_000001.10:g.116243313C>G , CM000663.1:g.116243313C>G GRCh37
NC_000001.9:g.116044836C>G NCBI36
NG_008802.1:g.73114G>C , LRG_404:g.73114G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1121G>C ENSP00000518226.1:n.*1121G>C
ENST00000261448.6:c.*549G>C MANE Select ENSP00000261448.5:n.*549G>C
ENST00000261448.5:c.*549G>C ENSP00000261448.5:n.*549G>C
NM_001232.3:c.*549G>C , LRG_404t1:c.*549G>C NP_001223.2:n.*549G>C
NM_001232.4:c.*549G>C MANE Select NP_001223.2:n.*549G>C
Search 100 bp 5'
Search 100 bp 3'