Canonical Allele Identifier: CA341763947

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116280923T>C (hg19) ; chr1:g.115738302T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738302T>C , CM000663.2:g.115738302T>C	GRCh38
NC_000001.10:g.116280923T>C , CM000663.1:g.116280923T>C	GRCh37
NC_000001.9:g.116082446T>C	NCBI36
NG_008802.1:g.35504A>G , LRG_404:g.35504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.178A>G	ENSP00000518226.1:p.Lys60Glu
ENST00000261448.6:c.454A>G MANE Select	ENSP00000261448.5:p.Lys152Glu
ENST00000261448.5:c.454A>G	ENSP00000261448.5:p.Lys152Glu
NM_001232.3:c.454A>G , LRG_404t1:c.454A>G	NP_001223.2:p.Lys152Glu
NM_001232.4:c.454A>G MANE Select	NP_001223.2:p.Lys152Glu