Canonical Allele Identifier: CA341766772
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705209G>C , CM000663.2:g.115705209G>C GRCh38
NC_000001.10:g.116247830G>C , CM000663.1:g.116247830G>C GRCh37
NC_000001.9:g.116049353G>C NCBI36
NG_008802.1:g.68597C>G , LRG_404:g.68597C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*294C>G ENSP00000518226.1:n.*294C>G
ENST00000261448.6:c.922C>G MANE Select ENSP00000261448.5:p.Pro308Ala
ENST00000261448.5:c.922C>G ENSP00000261448.5:p.Pro308Ala
NM_001232.3:c.922C>G , LRG_404t1:c.922C>G NP_001223.2:p.Pro308Ala
NM_001232.4:c.922C>G MANE Select NP_001223.2:p.Pro308Ala