Canonical Allele Identifier: CA341769098
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116275597T>G (hg19) chr1:g.115732976T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732976T>G , CM000663.2:g.115732976T>G GRCh38
NC_000001.10:g.116275597T>G , CM000663.1:g.116275597T>G GRCh37
NC_000001.9:g.116077120T>G NCBI36
NG_008802.1:g.40830A>C , LRG_404:g.40830A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.257-2A>C ENSP00000518226.1:n.257-2A>C
ENST00000261448.6:c.533-2A>C MANE Select ENSP00000261448.5:n.533-2A>C
ENST00000261448.5:c.533-2A>C ENSP00000261448.5:n.533-2A>C
NM_001232.3:c.533-2A>C , LRG_404t1:c.533-2A>C NP_001223.2:n.533-2A>C
NM_001232.4:c.533-2A>C MANE Select NP_001223.2:n.533-2A>C
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