Canonical Allele Identifier: CA525429823
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs769909833
gnomAD v2: 1-116245632-A-C
gnomAD v3: 1-115703011-A-C
gnomAD v4: 1-115703011-A-C
MyVariant Identifiers: chr1:g.116245632A>C (hg19) chr1:g.115703011A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703011A>C , CM000663.2:g.115703011A>C GRCh38
NC_000001.10:g.116245632A>C , CM000663.1:g.116245632A>C GRCh37
NC_000001.9:g.116047155A>C NCBI36
NG_008802.1:g.70795T>G , LRG_404:g.70795T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-16T>G ENSP00000518226.1:n.*312-16T>G
ENST00000261448.6:c.940-16T>G MANE Select ENSP00000261448.5:n.940-16T>G
ENST00000261448.5:c.940-16T>G ENSP00000261448.5:n.940-16T>G
NM_001232.3:c.940-16T>G , LRG_404t1:c.940-16T>G NP_001223.2:n.940-16T>G
NM_001232.4:c.940-16T>G MANE Select NP_001223.2:n.940-16T>G
Search 100 bp 5'
Search 100 bp 3'