Canonical Allele Identifier: CA420178394

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116311028A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768407A>G , CM000663.2:g.115768407A>G	GRCh38
NC_000001.10:g.116311028A>G , CM000663.1:g.116311028A>G	GRCh37
NC_000001.9:g.116112551A>G	NCBI36
NG_008802.1:g.5399T>C , LRG_404:g.5399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-142T>C	ENSP00000518226.1:n.-142T>C
ENST00000261448.6:c.135T>C MANE Select	ENSP00000261448.5:p.Val45=
ENST00000261448.5:c.135T>C	ENSP00000261448.5:p.Val45=
NM_001232.3:c.135T>C , LRG_404t1:c.135T>C	NP_001223.2:p.Val45=
NM_001232.4:c.135T>C MANE Select	NP_001223.2:p.Val45=