Canonical Allele Identifier: CA419896063
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116275579T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732958T>C , CM000663.2:g.115732958T>C GRCh38
NC_000001.10:g.116275579T>C , CM000663.1:g.116275579T>C GRCh37
NC_000001.9:g.116077102T>C NCBI36
NG_008802.1:g.40848A>G , LRG_404:g.40848A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.273A>G ENSP00000518226.1:p.Glu91=
ENST00000261448.6:c.549A>G MANE Select ENSP00000261448.5:p.Glu183=
ENST00000261448.5:c.549A>G ENSP00000261448.5:p.Glu183=
NM_001232.3:c.549A>G , LRG_404t1:c.549A>G NP_001223.2:p.Glu183=
NM_001232.4:c.549A>G MANE Select NP_001223.2:p.Glu183=
Search 100 bp 5'
Search 100 bp 3'