Canonical Allele Identifier: CA341767373
Gene: CASQ2 HGNC NCBI

Linked Data

COSMIC: COSM4142185
MyVariant Identifiers: chr1:g.116311113C>A (hg19) chr1:g.115768492C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768492C>A , CM000663.2:g.115768492C>A GRCh38
NC_000001.10:g.116311113C>A , CM000663.1:g.116311113C>A GRCh37
NC_000001.9:g.116112636C>A NCBI36
NG_008802.1:g.5314G>T , LRG_404:g.5314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-4G>T ENSP00000518226.1:n.-223-4G>T
ENST00000261448.6:c.50G>T MANE Select ENSP00000261448.5:p.Cys17Phe
ENST00000261448.5:c.50G>T ENSP00000261448.5:p.Cys17Phe
NM_001232.3:c.50G>T , LRG_404t1:c.50G>T NP_001223.2:p.Cys17Phe
NM_001232.4:c.50G>T MANE Select NP_001223.2:p.Cys17Phe
Search 100 bp 5'
Search 100 bp 3'