Canonical Allele Identifier: CA1190742409
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs993662836
gnomAD v4: 1-115768174-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768174A>G , CM000663.2:g.115768174A>G GRCh38
NC_000001.10:g.116310795A>G , CM000663.1:g.116310795A>G GRCh37
NC_000001.9:g.116112318A>G NCBI36
NG_008802.1:g.5632T>C , LRG_404:g.5632T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+134T>C ENSP00000518226.1:n.-43+134T>C
ENST00000261448.6:c.234+134T>C MANE Select ENSP00000261448.5:n.234+134T>C
ENST00000261448.5:c.234+134T>C ENSP00000261448.5:n.234+134T>C
NM_001232.3:c.234+134T>C , LRG_404t1:c.234+134T>C NP_001223.2:n.234+134T>C
NM_001232.4:c.234+134T>C MANE Select NP_001223.2:n.234+134T>C
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