Canonical Allele Identifier: CA341767130
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768385A>C , CM000663.2:g.115768385A>C GRCh38
NC_000001.10:g.116311006A>C , CM000663.1:g.116311006A>C GRCh37
NC_000001.9:g.116112529A>C NCBI36
NG_008802.1:g.5421T>G , LRG_404:g.5421T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-120T>G ENSP00000518226.1:n.-120T>G
ENST00000261448.6:c.157T>G MANE Select ENSP00000261448.5:p.Cys53Gly
ENST00000261448.5:c.157T>G ENSP00000261448.5:p.Cys53Gly
NM_001232.3:c.157T>G , LRG_404t1:c.157T>G NP_001223.2:p.Cys53Gly
NM_001232.4:c.157T>G MANE Select NP_001223.2:p.Cys53Gly