Canonical Allele Identifier: CA525428147
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1233740860
gnomAD v2: 1-116281002-C-CTTGAA
MyVariant Identifiers: chr1:g.116281002_116281003insTTGAA (hg19) chr1:g.115738381_115738382insTTGAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738381_115738382insTTGAA , CM000663.2:g.115738381_115738382insTTGAA GRCh38
NC_000001.10:g.116281002_116281003insTTGAA , CM000663.1:g.116281002_116281003insTTGAA GRCh37
NC_000001.9:g.116082525_116082526insTTGAA NCBI36
NG_008802.1:g.35424_35425insTTCAA , LRG_404:g.35424_35425insTTCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-47_145-46insTTCAA ENSP00000518226.1:n.145-47_145-46insTTCAA
ENST00000261448.6:c.421-47_421-46insTTCAA MANE Select ENSP00000261448.5:n.421-47_421-46insTTCAA
ENST00000261448.5:c.421-47_421-46insTTCAA ENSP00000261448.5:n.421-47_421-46insTTCAA
NM_001232.3:c.421-47_421-46insTTCAA , LRG_404t1:c.421-47_421-46insTTCAA NP_001223.2:n.421-47_421-46insTTCAA
NM_001232.4:c.421-47_421-46insTTCAA MANE Select NP_001223.2:n.421-47_421-46insTTCAA
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