Canonical Allele Identifier: CA2647281246
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768563-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768563G>T , CM000663.2:g.115768563G>T GRCh38
NC_000001.10:g.116311184G>T , CM000663.1:g.116311184G>T GRCh37
NC_000001.9:g.116112707G>T NCBI36
NG_008802.1:g.5243C>A , LRG_404:g.5243C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-75C>A ENSP00000518226.1:n.-223-75C>A
ENST00000261448.6:c.-22C>A MANE Select ENSP00000261448.5:n.-22C>A
ENST00000261448.5:c.-22C>A ENSP00000261448.5:n.-22C>A
NM_001232.3:c.-22C>A , LRG_404t1:c.-22C>A NP_001223.2:n.-22C>A
NM_001232.4:c.-22C>A MANE Select NP_001223.2:n.-22C>A
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