Canonical Allele Identifier: CA2647256718
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700693-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700693C>A , CM000663.2:g.115700693C>A GRCh38
NC_000001.10:g.116243314C>A , CM000663.1:g.116243314C>A GRCh37
NC_000001.9:g.116044837C>A NCBI36
NG_008802.1:g.73113G>T , LRG_404:g.73113G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1120G>T ENSP00000518226.1:n.*1120G>T
ENST00000261448.6:c.*548G>T MANE Select ENSP00000261448.5:n.*548G>T
ENST00000261448.5:c.*548G>T ENSP00000261448.5:n.*548G>T
NM_001232.3:c.*548G>T , LRG_404t1:c.*548G>T NP_001223.2:n.*548G>T
NM_001232.4:c.*548G>T MANE Select NP_001223.2:n.*548G>T
Search 100 bp 5'
Search 100 bp 3'