Canonical Allele Identifier: CA341763896
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280899G>C (hg19) chr1:g.115738278G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738278G>C , CM000663.2:g.115738278G>C GRCh38
NC_000001.10:g.116280899G>C , CM000663.1:g.116280899G>C GRCh37
NC_000001.9:g.116082422G>C NCBI36
NG_008802.1:g.35528C>G , LRG_404:g.35528C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.202C>G ENSP00000518226.1:p.Arg68Gly
ENST00000261448.6:c.478C>G MANE Select ENSP00000261448.5:p.Arg160Gly
ENST00000261448.5:c.478C>G ENSP00000261448.5:p.Arg160Gly
NM_001232.3:c.478C>G , LRG_404t1:c.478C>G NP_001223.2:p.Arg160Gly
NM_001232.4:c.478C>G MANE Select NP_001223.2:p.Arg160Gly
Search 100 bp 5'
Search 100 bp 3'