Canonical Allele Identifier: CA341766968
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1432869286
gnomAD v4: 1-115768312-A-T
MyVariant Identifiers: chr1:g.116310933A>T (hg19) chr1:g.115768312A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768312A>T , CM000663.2:g.115768312A>T GRCh38
NC_000001.10:g.116310933A>T , CM000663.1:g.116310933A>T GRCh37
NC_000001.9:g.116112456A>T NCBI36
NG_008802.1:g.5494T>A , LRG_404:g.5494T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.-47T>A ENSP00000518226.1:n.-47T>A
ENST00000261448.6:c.230T>A MANE Select ENSP00000261448.5:p.Leu77His
ENST00000261448.5:c.230T>A ENSP00000261448.5:p.Leu77His
NM_001232.3:c.230T>A , LRG_404t1:c.230T>A NP_001223.2:p.Leu77His
NM_001232.4:c.230T>A MANE Select NP_001223.2:p.Leu77His
Search 100 bp 5'
Search 100 bp 3'