Canonical Allele Identifier: CA1190726852
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732760A= , CM000663.2:g.115732760A= GRCh38
NC_000001.10:g.116275381A= , CM000663.1:g.116275381A= GRCh37
NC_000001.9:g.116076904A= NCBI36
NG_008802.1:g.41046T= , LRG_404:g.41046T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+141T= ENSP00000518226.1:n.330+141T=
ENST00000261448.6:c.606+141T= MANE Select ENSP00000261448.5:n.606+141T=
ENST00000261448.5:c.606+141T= ENSP00000261448.5:n.606+141T=
ENST00000488931.1:n.27+141T=
NM_001232.3:c.606+141T= , LRG_404t1:c.606+141T= NP_001223.2:n.606+141T=
NM_001232.4:c.606+141T= MANE Select NP_001223.2:n.606+141T=