Canonical Allele Identifier: CA341763922

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116280911G>T (hg19) ; chr1:g.115738290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738290G>T , CM000663.2:g.115738290G>T	GRCh38
NC_000001.10:g.116280911G>T , CM000663.1:g.116280911G>T	GRCh37
NC_000001.9:g.116082434G>T	NCBI36
NG_008802.1:g.35516C>A , LRG_404:g.35516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.190C>A	ENSP00000518226.1:p.Gln64Lys
ENST00000261448.6:c.466C>A MANE Select	ENSP00000261448.5:p.Gln156Lys
ENST00000261448.5:c.466C>A	ENSP00000261448.5:p.Gln156Lys
NM_001232.3:c.466C>A , LRG_404t1:c.466C>A	NP_001223.2:p.Gln156Lys
NM_001232.4:c.466C>A MANE Select	NP_001223.2:p.Gln156Lys