Canonical Allele Identifier: CA341766990

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116310944T>A (hg19) ; chr1:g.115768323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768323T>A , CM000663.2:g.115768323T>A	GRCh38
NC_000001.10:g.116310944T>A , CM000663.1:g.116310944T>A	GRCh37
NC_000001.9:g.116112467T>A	NCBI36
NG_008802.1:g.5483A>T , LRG_404:g.5483A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-58A>T	ENSP00000518226.1:n.-58A>T
ENST00000261448.6:c.219A>T MANE Select	ENSP00000261448.5:p.Lys73Asn
ENST00000261448.5:c.219A>T	ENSP00000261448.5:p.Lys73Asn
NM_001232.3:c.219A>T , LRG_404t1:c.219A>T	NP_001223.2:p.Lys73Asn
NM_001232.4:c.219A>T MANE Select	NP_001223.2:p.Lys73Asn