Canonical Allele Identifier: CA420178434
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311058T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768437T>A , CM000663.2:g.115768437T>A GRCh38
NC_000001.10:g.116311058T>A , CM000663.1:g.116311058T>A GRCh37
NC_000001.9:g.116112581T>A NCBI36
NG_008802.1:g.5369A>T , LRG_404:g.5369A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-172A>T ENSP00000518226.1:n.-172A>T
ENST00000261448.6:c.105A>T MANE Select ENSP00000261448.5:p.Val35=
ENST00000261448.5:c.105A>T ENSP00000261448.5:p.Val35=
NM_001232.3:c.105A>T , LRG_404t1:c.105A>T NP_001223.2:p.Val35=
NM_001232.4:c.105A>T MANE Select NP_001223.2:p.Val35=