Canonical Allele Identifier: CA420178489
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311139A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768518A>G , CM000663.2:g.115768518A>G GRCh38
NC_000001.10:g.116311139A>G , CM000663.1:g.116311139A>G GRCh37
NC_000001.9:g.116112662A>G NCBI36
NG_008802.1:g.5288T>C , LRG_404:g.5288T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-30T>C ENSP00000518226.1:n.-223-30T>C
ENST00000261448.6:c.24T>C MANE Select ENSP00000261448.5:p.Ile8=
ENST00000261448.5:c.24T>C ENSP00000261448.5:p.Ile8=
NM_001232.3:c.24T>C , LRG_404t1:c.24T>C NP_001223.2:p.Ile8=
NM_001232.4:c.24T>C MANE Select NP_001223.2:p.Ile8=
Search 100 bp 5'
Search 100 bp 3'