Canonical Allele Identifier: CA420178484
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311133C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768512C>G , CM000663.2:g.115768512C>G GRCh38
NC_000001.10:g.116311133C>G , CM000663.1:g.116311133C>G GRCh37
NC_000001.9:g.116112656C>G NCBI36
NG_008802.1:g.5294G>C , LRG_404:g.5294G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-24G>C ENSP00000518226.1:n.-223-24G>C
ENST00000261448.6:c.30G>C MANE Select ENSP00000261448.5:p.Gly10=
ENST00000261448.5:c.30G>C ENSP00000261448.5:p.Gly10=
NM_001232.3:c.30G>C , LRG_404t1:c.30G>C NP_001223.2:p.Gly10=
NM_001232.4:c.30G>C MANE Select NP_001223.2:p.Gly10=
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Search 100 bp 3'