Canonical Allele Identifier: CA341763892
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280895A>C (hg19) chr1:g.115738274A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738274A>C , CM000663.2:g.115738274A>C GRCh38
NC_000001.10:g.116280895A>C , CM000663.1:g.116280895A>C GRCh37
NC_000001.9:g.116082418A>C NCBI36
NG_008802.1:g.35532T>G , LRG_404:g.35532T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.206T>G ENSP00000518226.1:p.Ile69Ser
ENST00000261448.6:c.482T>G MANE Select ENSP00000261448.5:p.Ile161Ser
ENST00000261448.5:c.482T>G ENSP00000261448.5:p.Ile161Ser
NM_001232.3:c.482T>G , LRG_404t1:c.482T>G NP_001223.2:p.Ile161Ser
NM_001232.4:c.482T>G MANE Select NP_001223.2:p.Ile161Ser
Search 100 bp 5'
Search 100 bp 3'