Canonical Allele Identifier: CA341767044

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116310967T>G (hg19) ; chr1:g.115768346T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768346T>G , CM000663.2:g.115768346T>G	GRCh38
NC_000001.10:g.116310967T>G , CM000663.1:g.116310967T>G	GRCh37
NC_000001.9:g.116112490T>G	NCBI36
NG_008802.1:g.5460A>C , LRG_404:g.5460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-81A>C	ENSP00000518226.1:n.-81A>C
ENST00000261448.6:c.196A>C MANE Select	ENSP00000261448.5:p.Thr66Pro
ENST00000261448.5:c.196A>C	ENSP00000261448.5:p.Thr66Pro
NM_001232.3:c.196A>C , LRG_404t1:c.196A>C	NP_001223.2:p.Thr66Pro
NM_001232.4:c.196A>C MANE Select	NP_001223.2:p.Thr66Pro