Canonical Allele Identifier: CA16603400
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 382285
ClinVar RCV Id: RCV000444365
dbSNP Id: rs1057521312
MyVariant Identifiers: chr1:g.116311192A>G (hg19) chr1:g.115768571A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768571A>G , CM000663.2:g.115768571A>G GRCh38
NC_000001.10:g.116311192A>G , CM000663.1:g.116311192A>G GRCh37
NC_000001.9:g.116112715A>G NCBI36
NG_008802.1:g.5235T>C , LRG_404:g.5235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-83T>C ENSP00000518226.1:n.-223-83T>C
ENST00000261448.6:c.-30T>C MANE Select ENSP00000261448.5:n.-30T>C
ENST00000261448.5:c.-30T>C ENSP00000261448.5:n.-30T>C
NM_001232.3:c.-30T>C , LRG_404t1:c.-30T>C NP_001223.2:n.-30T>C
NM_001232.4:c.-30T>C MANE Select NP_001223.2:n.-30T>C
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