Canonical Allele Identifier: CA420178305

Gene: CASQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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