Canonical Allele Identifier: CA420178332

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116310983C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768362C>T , CM000663.2:g.115768362C>T	GRCh38
NC_000001.10:g.116310983C>T , CM000663.1:g.116310983C>T	GRCh37
NC_000001.9:g.116112506C>T	NCBI36
NG_008802.1:g.5444G>A , LRG_404:g.5444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-97G>A	ENSP00000518226.1:n.-97G>A
ENST00000261448.6:c.180G>A MANE Select	ENSP00000261448.5:p.Val60=
ENST00000261448.5:c.180G>A	ENSP00000261448.5:p.Val60=
NM_001232.3:c.180G>A , LRG_404t1:c.180G>A	NP_001223.2:p.Val60=
NM_001232.4:c.180G>A MANE Select	NP_001223.2:p.Val60=