Canonical Allele Identifier: CA2696654578
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs2101130116

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768138C>G , CM000663.2:g.115768138C>G GRCh38
NC_000001.10:g.116310759C>G , CM000663.1:g.116310759C>G GRCh37
NC_000001.9:g.116112282C>G NCBI36
NG_008802.1:g.5668G>C , LRG_404:g.5668G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+170G>C ENSP00000518226.1:n.-43+170G>C
ENST00000261448.6:c.234+170G>C MANE Select ENSP00000261448.5:n.234+170G>C
ENST00000261448.5:c.234+170G>C ENSP00000261448.5:n.234+170G>C
NM_001232.3:c.234+170G>C , LRG_404t1:c.234+170G>C NP_001223.2:n.234+170G>C
NM_001232.4:c.234+170G>C MANE Select NP_001223.2:n.234+170G>C