Canonical Allele Identifier: CA341763805
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280857C>A (hg19) chr1:g.115738236C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738236C>A , CM000663.2:g.115738236C>A GRCh38
NC_000001.10:g.116280857C>A , CM000663.1:g.116280857C>A GRCh37
NC_000001.9:g.116082380C>A NCBI36
NG_008802.1:g.35570G>T , LRG_404:g.35570G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.244G>T ENSP00000518226.1:p.Glu82Ter
ENST00000261448.6:c.520G>T MANE Select ENSP00000261448.5:p.Glu174Ter
ENST00000261448.5:c.520G>T ENSP00000261448.5:p.Glu174Ter
NM_001232.3:c.520G>T , LRG_404t1:c.520G>T NP_001223.2:p.Glu174Ter
NM_001232.4:c.520G>T MANE Select NP_001223.2:p.Glu174Ter
Search 100 bp 5'
Search 100 bp 3'