Canonical Allele Identifier: CA341767154
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311016A>C (hg19) chr1:g.115768395A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768395A>C , CM000663.2:g.115768395A>C GRCh38
NC_000001.10:g.116311016A>C , CM000663.1:g.116311016A>C GRCh37
NC_000001.9:g.116112539A>C NCBI36
NG_008802.1:g.5411T>G , LRG_404:g.5411T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-130T>G ENSP00000518226.1:n.-130T>G
ENST00000261448.6:c.147T>G MANE Select ENSP00000261448.5:p.Tyr49Ter
ENST00000261448.5:c.147T>G ENSP00000261448.5:p.Tyr49Ter
NM_001232.3:c.147T>G , LRG_404t1:c.147T>G NP_001223.2:p.Tyr49Ter
NM_001232.4:c.147T>G MANE Select NP_001223.2:p.Tyr49Ter
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