Canonical Allele Identifier: CA2647280045
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738158A>G , CM000663.2:g.115738158A>G GRCh38
NC_000001.10:g.116280779A>G , CM000663.1:g.116280779A>G GRCh37
NC_000001.9:g.116082302A>G NCBI36
NG_008802.1:g.35648T>C , LRG_404:g.35648T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+66T>C ENSP00000518226.1:n.256+66T>C
ENST00000261448.6:c.532+66T>C MANE Select ENSP00000261448.5:n.532+66T>C
ENST00000261448.5:c.532+66T>C ENSP00000261448.5:n.532+66T>C
NM_001232.3:c.532+66T>C , LRG_404t1:c.532+66T>C NP_001223.2:n.532+66T>C
NM_001232.4:c.532+66T>C MANE Select NP_001223.2:n.532+66T>C