Canonical Allele Identifier: CA1148431205
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768576C= , CM000663.2:g.115768576C= GRCh38
NC_000001.10:g.116311197C= , CM000663.1:g.116311197C= GRCh37
NC_000001.9:g.116112720C= NCBI36
NG_008802.1:g.5230G= , LRG_404:g.5230G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-88G= ENSP00000518226.1:n.-223-88G=
ENST00000261448.6:c.-35G= MANE Select ENSP00000261448.5:n.-35G=
ENST00000261448.5:c.-35G= ENSP00000261448.5:n.-35G=
NM_001232.3:c.-35G= , LRG_404t1:c.-35G= NP_001223.2:n.-35G=
NM_001232.4:c.-35G= MANE Select NP_001223.2:n.-35G=