Canonical Allele Identifier: CA2647256715
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700691-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700691G>T , CM000663.2:g.115700691G>T GRCh38
NC_000001.10:g.116243312G>T , CM000663.1:g.116243312G>T GRCh37
NC_000001.9:g.116044835G>T NCBI36
NG_008802.1:g.73115C>A , LRG_404:g.73115C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1122C>A ENSP00000518226.1:n.*1122C>A
ENST00000261448.6:c.*550C>A MANE Select ENSP00000261448.5:n.*550C>A
ENST00000261448.5:c.*550C>A ENSP00000261448.5:n.*550C>A
NM_001232.3:c.*550C>A , LRG_404t1:c.*550C>A NP_001223.2:n.*550C>A
NM_001232.4:c.*550C>A MANE Select NP_001223.2:n.*550C>A
Search 100 bp 5'
Search 100 bp 3'