Canonical Allele Identifier: CA341769028
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732945G>T , CM000663.2:g.115732945G>T GRCh38
NC_000001.10:g.116275566G>T , CM000663.1:g.116275566G>T GRCh37
NC_000001.9:g.116077089G>T NCBI36
NG_008802.1:g.40861C>A , LRG_404:g.40861C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.286C>A ENSP00000518226.1:p.His96Asn
ENST00000261448.6:c.562C>A MANE Select ENSP00000261448.5:p.His188Asn
ENST00000261448.5:c.562C>A ENSP00000261448.5:p.His188Asn
NM_001232.3:c.562C>A , LRG_404t1:c.562C>A NP_001223.2:p.His188Asn
NM_001232.4:c.562C>A MANE Select NP_001223.2:p.His188Asn