Canonical Allele Identifier: CA2647256822
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700777G>A , CM000663.2:g.115700777G>A GRCh38
NC_000001.10:g.116243398G>A , CM000663.1:g.116243398G>A GRCh37
NC_000001.9:g.116044921G>A NCBI36
NG_008802.1:g.73029C>T , LRG_404:g.73029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1036C>T ENSP00000518226.1:n.*1036C>T
ENST00000261448.6:c.*464C>T MANE Select ENSP00000261448.5:n.*464C>T
ENST00000261448.5:c.*464C>T ENSP00000261448.5:n.*464C>T
NM_001232.3:c.*464C>T , LRG_404t1:c.*464C>T NP_001223.2:n.*464C>T
NM_001232.4:c.*464C>T MANE Select NP_001223.2:n.*464C>T