Canonical Allele Identifier: CA420178306
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116310968G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768347G>T , CM000663.2:g.115768347G>T GRCh38
NC_000001.10:g.116310968G>T , CM000663.1:g.116310968G>T GRCh37
NC_000001.9:g.116112491G>T NCBI36
NG_008802.1:g.5459C>A , LRG_404:g.5459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-82C>A ENSP00000518226.1:n.-82C>A
ENST00000261448.6:c.195C>A MANE Select ENSP00000261448.5:p.Val65=
ENST00000261448.5:c.195C>A ENSP00000261448.5:p.Val65=
NM_001232.3:c.195C>A , LRG_404t1:c.195C>A NP_001223.2:p.Val65=
NM_001232.4:c.195C>A MANE Select NP_001223.2:p.Val65=