Canonical Allele Identifier: CA341767100

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116310994G>A (hg19) ; chr1:g.115768373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768373G>A , CM000663.2:g.115768373G>A	GRCh38
NC_000001.10:g.116310994G>A , CM000663.1:g.116310994G>A	GRCh37
NC_000001.9:g.116112517G>A	NCBI36
NG_008802.1:g.5433C>T , LRG_404:g.5433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-108C>T	ENSP00000518226.1:n.-108C>T
ENST00000261448.6:c.169C>T MANE Select	ENSP00000261448.5:p.His57Tyr
ENST00000261448.5:c.169C>T	ENSP00000261448.5:p.His57Tyr
NM_001232.3:c.169C>T , LRG_404t1:c.169C>T	NP_001223.2:p.His57Tyr
NM_001232.4:c.169C>T MANE Select	NP_001223.2:p.His57Tyr