Canonical Allele Identifier: CA1023982
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427018
dbSNP Id: rs757789935

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768306A>G , CM000663.2:g.115768306A>G GRCh38
NC_000001.10:g.116310927A>G , CM000663.1:g.116310927A>G GRCh37
NC_000001.9:g.116112450A>G NCBI36
NG_008802.1:g.5500T>C , LRG_404:g.5500T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.-43+2T>C ENSP00000518226.1:n.-43+2T>C
ENST00000261448.6:c.234+2T>C MANE Select ENSP00000261448.5:n.234+2T>C
ENST00000261448.5:c.234+2T>C ENSP00000261448.5:n.234+2T>C
NM_001232.3:c.234+2T>C , LRG_404t1:c.234+2T>C NP_001223.2:n.234+2T>C
NM_001232.4:c.234+2T>C MANE Select NP_001223.2:n.234+2T>C