Canonical Allele Identifier: CA341767341
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311100C>A (hg19) chr1:g.115768479C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768479C>A , CM000663.2:g.115768479C>A GRCh38
NC_000001.10:g.116311100C>A , CM000663.1:g.116311100C>A GRCh37
NC_000001.9:g.116112623C>A NCBI36
NG_008802.1:g.5327G>T , LRG_404:g.5327G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-214G>T ENSP00000518226.1:n.-214G>T
ENST00000261448.6:c.63G>T MANE Select ENSP00000261448.5:p.Glu21Asp
ENST00000261448.5:c.63G>T ENSP00000261448.5:p.Glu21Asp
NM_001232.3:c.63G>T , LRG_404t1:c.63G>T NP_001223.2:p.Glu21Asp
NM_001232.4:c.63G>T MANE Select NP_001223.2:p.Glu21Asp
Search 100 bp 5'
Search 100 bp 3'