Canonical Allele Identifier: CA341767152
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768394C>G , CM000663.2:g.115768394C>G GRCh38
NC_000001.10:g.116311015C>G , CM000663.1:g.116311015C>G GRCh37
NC_000001.9:g.116112538C>G NCBI36
NG_008802.1:g.5412G>C , LRG_404:g.5412G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-129G>C ENSP00000518226.1:n.-129G>C
ENST00000261448.6:c.148G>C MANE Select ENSP00000261448.5:p.Asp50His
ENST00000261448.5:c.148G>C ENSP00000261448.5:p.Asp50His
NM_001232.3:c.148G>C , LRG_404t1:c.148G>C NP_001223.2:p.Asp50His
NM_001232.4:c.148G>C MANE Select NP_001223.2:p.Asp50His