Canonical Allele Identifier: CA420178470
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311115A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768494A>C , CM000663.2:g.115768494A>C GRCh38
NC_000001.10:g.116311115A>C , CM000663.1:g.116311115A>C GRCh37
NC_000001.9:g.116112638A>C NCBI36
NG_008802.1:g.5312T>G , LRG_404:g.5312T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-6T>G ENSP00000518226.1:n.-223-6T>G
ENST00000261448.6:c.48T>G MANE Select ENSP00000261448.5:p.Ser16=
ENST00000261448.5:c.48T>G ENSP00000261448.5:p.Ser16=
NM_001232.3:c.48T>G , LRG_404t1:c.48T>G NP_001223.2:p.Ser16=
NM_001232.4:c.48T>G MANE Select NP_001223.2:p.Ser16=
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