Canonical Allele Identifier: CA341763844
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280873A>C (hg19) chr1:g.115738252A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738252A>C , CM000663.2:g.115738252A>C GRCh38
NC_000001.10:g.116280873A>C , CM000663.1:g.116280873A>C GRCh37
NC_000001.9:g.116082396A>C NCBI36
NG_008802.1:g.35554T>G , LRG_404:g.35554T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.228T>G ENSP00000518226.1:p.Ile76Met
ENST00000261448.6:c.504T>G MANE Select ENSP00000261448.5:p.Ile168Met
ENST00000261448.5:c.504T>G ENSP00000261448.5:p.Ile168Met
NM_001232.3:c.504T>G , LRG_404t1:c.504T>G NP_001223.2:p.Ile168Met
NM_001232.4:c.504T>G MANE Select NP_001223.2:p.Ile168Met
Search 100 bp 5'
Search 100 bp 3'