Canonical Allele Identifier: CA341763913
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1557796962
gnomAD v4: 1-115738286-G-T
MyVariant Identifiers: chr1:g.116280907G>T (hg19) chr1:g.115738286G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738286G>T , CM000663.2:g.115738286G>T GRCh38
NC_000001.10:g.116280907G>T , CM000663.1:g.116280907G>T GRCh37
NC_000001.9:g.116082430G>T NCBI36
NG_008802.1:g.35520C>A , LRG_404:g.35520C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.194C>A ENSP00000518226.1:p.Ala65Asp
ENST00000261448.6:c.470C>A MANE Select ENSP00000261448.5:p.Ala157Asp
ENST00000261448.5:c.470C>A ENSP00000261448.5:p.Ala157Asp
NM_001232.3:c.470C>A , LRG_404t1:c.470C>A NP_001223.2:p.Ala157Asp
NM_001232.4:c.470C>A MANE Select NP_001223.2:p.Ala157Asp
Search 100 bp 5'
Search 100 bp 3'