Canonical Allele Identifier: CA420178373

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116311010C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768389C>T , CM000663.2:g.115768389C>T	GRCh38
NC_000001.10:g.116311010C>T , CM000663.1:g.116311010C>T	GRCh37
NC_000001.9:g.116112533C>T	NCBI36
NG_008802.1:g.5417G>A , LRG_404:g.5417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-124G>A	ENSP00000518226.1:n.-124G>A
ENST00000261448.6:c.153G>A MANE Select	ENSP00000261448.5:p.Leu51=
ENST00000261448.5:c.153G>A	ENSP00000261448.5:p.Leu51=
NM_001232.3:c.153G>A , LRG_404t1:c.153G>A	NP_001223.2:p.Leu51=
NM_001232.4:c.153G>A MANE Select	NP_001223.2:p.Leu51=