Canonical Allele Identifier: CA1190729377
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738512G= , CM000663.2:g.115738512G= GRCh38
NC_000001.10:g.116281133G= , CM000663.1:g.116281133G= GRCh37
NC_000001.9:g.116082656G= NCBI36
NG_008802.1:g.35294C= , LRG_404:g.35294C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-177C= ENSP00000518226.1:n.145-177C=
ENST00000261448.6:c.421-177C= MANE Select ENSP00000261448.5:n.421-177C=
ENST00000261448.5:c.421-177C= ENSP00000261448.5:n.421-177C=
NM_001232.3:c.421-177C= , LRG_404t1:c.421-177C= NP_001223.2:n.421-177C=
NM_001232.4:c.421-177C= MANE Select NP_001223.2:n.421-177C=