Canonical Allele Identifier: CA1024008
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs765056841
ExAC: 1:116311118 G / C
gnomAD v2: 1-116311118-G-C
gnomAD v4: 1-115768497-G-C
MyVariant Identifiers: chr1:g.116311118G>C (hg19) chr1:g.115768497G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768497G>C , CM000663.2:g.115768497G>C GRCh38
NC_000001.10:g.116311118G>C , CM000663.1:g.116311118G>C GRCh37
NC_000001.9:g.116112641G>C NCBI36
NG_008802.1:g.5309C>G , LRG_404:g.5309C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-9C>G ENSP00000518226.1:n.-223-9C>G
ENST00000261448.6:c.45C>G MANE Select ENSP00000261448.5:p.Ser15=
ENST00000261448.5:c.45C>G ENSP00000261448.5:p.Ser15=
NM_001232.3:c.45C>G , LRG_404t1:c.45C>G NP_001223.2:p.Ser15=
NM_001232.4:c.45C>G MANE Select NP_001223.2:p.Ser15=
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