Canonical Allele Identifier: CA341767235
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311050G>C (hg19) chr1:g.115768429G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768429G>C , CM000663.2:g.115768429G>C GRCh38
NC_000001.10:g.116311050G>C , CM000663.1:g.116311050G>C GRCh37
NC_000001.9:g.116112573G>C NCBI36
NG_008802.1:g.5377C>G , LRG_404:g.5377C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-164C>G ENSP00000518226.1:n.-164C>G
ENST00000261448.6:c.113C>G MANE Select ENSP00000261448.5:p.Ser38Cys
ENST00000261448.5:c.113C>G ENSP00000261448.5:p.Ser38Cys
NM_001232.3:c.113C>G , LRG_404t1:c.113C>G NP_001223.2:p.Ser38Cys
NM_001232.4:c.113C>G MANE Select NP_001223.2:p.Ser38Cys
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