Canonical Allele Identifier: CA885889821
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs111831854
gnomAD v3: 1-115768176-G-T
gnomAD v4: 1-115768176-G-T
MyVariant Identifiers: chr1:g.116310797G>T (hg19) chr1:g.115768176G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768176G>T , CM000663.2:g.115768176G>T GRCh38
NC_000001.10:g.116310797G>T , CM000663.1:g.116310797G>T GRCh37
NC_000001.9:g.116112320G>T NCBI36
NG_008802.1:g.5630C>A , LRG_404:g.5630C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+132C>A ENSP00000518226.1:n.-43+132C>A
ENST00000261448.6:c.234+132C>A MANE Select ENSP00000261448.5:n.234+132C>A
ENST00000261448.5:c.234+132C>A ENSP00000261448.5:n.234+132C>A
NM_001232.3:c.234+132C>A , LRG_404t1:c.234+132C>A NP_001223.2:n.234+132C>A
NM_001232.4:c.234+132C>A MANE Select NP_001223.2:n.234+132C>A
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