Canonical Allele Identifier: CA1190742529
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768465G= , CM000663.2:g.115768465G= GRCh38
NC_000001.10:g.116311086G= , CM000663.1:g.116311086G= GRCh37
NC_000001.9:g.116112609G= NCBI36
NG_008802.1:g.5341C= , LRG_404:g.5341C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-200C= ENSP00000518226.1:n.-200C=
ENST00000261448.6:c.77C= MANE Select ENSP00000261448.5:p.Pro26=
ENST00000261448.5:c.77C= ENSP00000261448.5:p.Pro26=
NM_001232.3:c.77C= , LRG_404t1:c.77C= NP_001223.2:p.Pro26=
NM_001232.4:c.77C= MANE Select NP_001223.2:p.Pro26=