Canonical Allele Identifier: CA341767383

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116311119G>A (hg19) ; chr1:g.115768498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768498G>A , CM000663.2:g.115768498G>A	GRCh38
NC_000001.10:g.116311119G>A , CM000663.1:g.116311119G>A	GRCh37
NC_000001.9:g.116112642G>A	NCBI36
NG_008802.1:g.5308C>T , LRG_404:g.5308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-10C>T	ENSP00000518226.1:n.-223-10C>T
ENST00000261448.6:c.44C>T MANE Select	ENSP00000261448.5:p.Ser15Phe
ENST00000261448.5:c.44C>T	ENSP00000261448.5:p.Ser15Phe
NM_001232.3:c.44C>T , LRG_404t1:c.44C>T	NP_001223.2:p.Ser15Phe
NM_001232.4:c.44C>T MANE Select	NP_001223.2:p.Ser15Phe