Canonical Allele Identifier: CA419895495
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116280897G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738276G>C , CM000663.2:g.115738276G>C GRCh38
NC_000001.10:g.116280897G>C , CM000663.1:g.116280897G>C GRCh37
NC_000001.9:g.116082420G>C NCBI36
NG_008802.1:g.35530C>G , LRG_404:g.35530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.204C>G ENSP00000518226.1:p.Arg68=
ENST00000261448.6:c.480C>G MANE Select ENSP00000261448.5:p.Arg160=
ENST00000261448.5:c.480C>G ENSP00000261448.5:p.Arg160=
NM_001232.3:c.480C>G , LRG_404t1:c.480C>G NP_001223.2:p.Arg160=
NM_001232.4:c.480C>G MANE Select NP_001223.2:p.Arg160=
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