Canonical Allele Identifier: CA341763786
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280850G>A (hg19) chr1:g.115738229G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738229G>A , CM000663.2:g.115738229G>A GRCh38
NC_000001.10:g.116280850G>A , CM000663.1:g.116280850G>A GRCh37
NC_000001.9:g.116082373G>A NCBI36
NG_008802.1:g.35577C>T , LRG_404:g.35577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.251C>T ENSP00000518226.1:p.Ser84Leu
ENST00000261448.6:c.527C>T MANE Select ENSP00000261448.5:p.Ser176Leu
ENST00000261448.5:c.527C>T ENSP00000261448.5:p.Ser176Leu
NM_001232.3:c.527C>T , LRG_404t1:c.527C>T NP_001223.2:p.Ser176Leu
NM_001232.4:c.527C>T MANE Select NP_001223.2:p.Ser176Leu
Search 100 bp 5'
Search 100 bp 3'