Canonical Allele Identifier: CA2647280700
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115705129-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705129G>T , CM000663.2:g.115705129G>T GRCh38
NC_000001.10:g.116247750G>T , CM000663.1:g.116247750G>T GRCh37
NC_000001.9:g.116049273G>T NCBI36
NG_008802.1:g.68677C>A , LRG_404:g.68677C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*311+63C>A ENSP00000518226.1:n.*311+63C>A
ENST00000261448.6:c.939+63C>A MANE Select ENSP00000261448.5:n.939+63C>A
ENST00000261448.5:c.939+63C>A ENSP00000261448.5:n.939+63C>A
NM_001232.3:c.939+63C>A , LRG_404t1:c.939+63C>A NP_001223.2:n.939+63C>A
NM_001232.4:c.939+63C>A MANE Select NP_001223.2:n.939+63C>A
Search 100 bp 5'
Search 100 bp 3'