Canonical Allele Identifier: CA419896062
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116275576T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732955T>C , CM000663.2:g.115732955T>C GRCh38
NC_000001.10:g.116275576T>C , CM000663.1:g.116275576T>C GRCh37
NC_000001.9:g.116077099T>C NCBI36
NG_008802.1:g.40851A>G , LRG_404:g.40851A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.276A>G ENSP00000518226.1:p.Glu92=
ENST00000261448.6:c.552A>G MANE Select ENSP00000261448.5:p.Glu184=
ENST00000261448.5:c.552A>G ENSP00000261448.5:p.Glu184=
NM_001232.3:c.552A>G , LRG_404t1:c.552A>G NP_001223.2:p.Glu184=
NM_001232.4:c.552A>G MANE Select NP_001223.2:p.Glu184=
Search 100 bp 5'
Search 100 bp 3'