Canonical Allele Identifier: CA1190742448
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768263C= , CM000663.2:g.115768263C= GRCh38
NC_000001.10:g.116310884C= , CM000663.1:g.116310884C= GRCh37
NC_000001.9:g.116112407C= NCBI36
NG_008802.1:g.5543G= , LRG_404:g.5543G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+45G= ENSP00000518226.1:n.-43+45G=
ENST00000261448.6:c.234+45G= MANE Select ENSP00000261448.5:n.234+45G=
ENST00000261448.5:c.234+45G= ENSP00000261448.5:n.234+45G=
NM_001232.3:c.234+45G= , LRG_404t1:c.234+45G= NP_001223.2:n.234+45G=
NM_001232.4:c.234+45G= MANE Select NP_001223.2:n.234+45G=