Canonical Allele Identifier: CA2647256804
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700767G>A , CM000663.2:g.115700767G>A GRCh38
NC_000001.10:g.116243388G>A , CM000663.1:g.116243388G>A GRCh37
NC_000001.9:g.116044911G>A NCBI36
NG_008802.1:g.73039C>T , LRG_404:g.73039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1046C>T ENSP00000518226.1:n.*1046C>T
ENST00000261448.6:c.*474C>T MANE Select ENSP00000261448.5:n.*474C>T
ENST00000261448.5:c.*474C>T ENSP00000261448.5:n.*474C>T
NM_001232.3:c.*474C>T , LRG_404t1:c.*474C>T NP_001223.2:n.*474C>T
NM_001232.4:c.*474C>T MANE Select NP_001223.2:n.*474C>T