Canonical Allele Identifier: CA420178316

Gene: CASQ2

Linked Data

• COSMIC: COSM6303536
• MyVariant Identifiers: chr1:g.116310977T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768356T>A , CM000663.2:g.115768356T>A	GRCh38
NC_000001.10:g.116310977T>A , CM000663.1:g.116310977T>A	GRCh37
NC_000001.9:g.116112500T>A	NCBI36
NG_008802.1:g.5450A>T , LRG_404:g.5450A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-91A>T	ENSP00000518226.1:n.-91A>T
ENST00000261448.6:c.186A>T MANE Select	ENSP00000261448.5:p.Ser62=
ENST00000261448.5:c.186A>T	ENSP00000261448.5:p.Ser62=
NM_001232.3:c.186A>T , LRG_404t1:c.186A>T	NP_001223.2:p.Ser62=
NM_001232.4:c.186A>T MANE Select	NP_001223.2:p.Ser62=