Canonical Allele Identifier: CA341767238
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311051A>G (hg19) chr1:g.115768430A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768430A>G , CM000663.2:g.115768430A>G GRCh38
NC_000001.10:g.116311051A>G , CM000663.1:g.116311051A>G GRCh37
NC_000001.9:g.116112574A>G NCBI36
NG_008802.1:g.5376T>C , LRG_404:g.5376T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-165T>C ENSP00000518226.1:n.-165T>C
ENST00000261448.6:c.112T>C MANE Select ENSP00000261448.5:p.Ser38Pro
ENST00000261448.5:c.112T>C ENSP00000261448.5:p.Ser38Pro
NM_001232.3:c.112T>C , LRG_404t1:c.112T>C NP_001223.2:p.Ser38Pro
NM_001232.4:c.112T>C MANE Select NP_001223.2:p.Ser38Pro
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