Canonical Allele Identifier: CA1140009144
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768346T= , CM000663.2:g.115768346T= GRCh38
NC_000001.10:g.116310967T= , CM000663.1:g.116310967T= GRCh37
NC_000001.9:g.116112490T= NCBI36
NG_008802.1:g.5460A= , LRG_404:g.5460A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-81A= ENSP00000518226.1:n.-81A=
ENST00000261448.6:c.196A= MANE Select ENSP00000261448.5:p.Thr66=
ENST00000261448.5:c.196A= ENSP00000261448.5:p.Thr66=
NM_001232.3:c.196A= , LRG_404t1:c.196A= NP_001223.2:p.Thr66=
NM_001232.4:c.196A= MANE Select NP_001223.2:p.Thr66=