Canonical Allele Identifier: CA420178371

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116311007A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768386A>T , CM000663.2:g.115768386A>T	GRCh38
NC_000001.10:g.116311007A>T , CM000663.1:g.116311007A>T	GRCh37
NC_000001.9:g.116112530A>T	NCBI36
NG_008802.1:g.5420T>A , LRG_404:g.5420T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-121T>A	ENSP00000518226.1:n.-121T>A
ENST00000261448.6:c.156T>A MANE Select	ENSP00000261448.5:p.Leu52=
ENST00000261448.5:c.156T>A	ENSP00000261448.5:p.Leu52=
NM_001232.3:c.156T>A , LRG_404t1:c.156T>A	NP_001223.2:p.Leu52=
NM_001232.4:c.156T>A MANE Select	NP_001223.2:p.Leu52=