Canonical Allele Identifier: CA258048
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17612
ClinVar RCV Id: RCV000019178
dbSNP Id: rs121434550

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738256A>T , CM000663.2:g.115738256A>T GRCh38
NC_000001.10:g.116280877A>T , CM000663.1:g.116280877A>T GRCh37
NC_000001.9:g.116082400A>T NCBI36
NG_008802.1:g.35550T>A , LRG_404:g.35550T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.224T>A ENSP00000518226.1:p.Leu75His
ENST00000261448.6:c.500T>A MANE Select ENSP00000261448.5:p.Leu167His
ENST00000261448.5:c.500T>A ENSP00000261448.5:p.Leu167His
NM_001232.3:c.500T>A , LRG_404t1:c.500T>A NP_001223.2:p.Leu167His
NM_001232.4:c.500T>A MANE Select NP_001223.2:p.Leu167His