Canonical Allele Identifier: CA420178353
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2787072
ClinVar RCV Id: RCV003639408
MyVariant Identifiers: chr1:g.116310998G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768377G>A , CM000663.2:g.115768377G>A GRCh38
NC_000001.10:g.116310998G>A , CM000663.1:g.116310998G>A GRCh37
NC_000001.9:g.116112521G>A NCBI36
NG_008802.1:g.5429C>T , LRG_404:g.5429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-112C>T ENSP00000518226.1:n.-112C>T
ENST00000261448.6:c.165C>T MANE Select ENSP00000261448.5:p.Tyr55=
ENST00000261448.5:c.165C>T ENSP00000261448.5:p.Tyr55=
NM_001232.3:c.165C>T , LRG_404t1:c.165C>T NP_001223.2:p.Tyr55=
NM_001232.4:c.165C>T MANE Select NP_001223.2:p.Tyr55=
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