Canonical Allele Identifier: CA341769057
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116275580T>A (hg19) chr1:g.115732959T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732959T>A , CM000663.2:g.115732959T>A GRCh38
NC_000001.10:g.116275580T>A , CM000663.1:g.116275580T>A GRCh37
NC_000001.9:g.116077103T>A NCBI36
NG_008802.1:g.40847A>T , LRG_404:g.40847A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.272A>T ENSP00000518226.1:p.Glu91Val
ENST00000261448.6:c.548A>T MANE Select ENSP00000261448.5:p.Glu183Val
ENST00000261448.5:c.548A>T ENSP00000261448.5:p.Glu183Val
NM_001232.3:c.548A>T , LRG_404t1:c.548A>T NP_001223.2:p.Glu183Val
NM_001232.4:c.548A>T MANE Select NP_001223.2:p.Glu183Val
Search 100 bp 5'
Search 100 bp 3'