Canonical Allele Identifier: CA1024021
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs4074537
ExAC: 1:116311198 T / C
gnomAD v2: 1-116311198-T-C
gnomAD v3: 1-115768577-T-C
gnomAD v4: 1-115768577-T-C
MyVariant Identifiers: chr1:g.116311198T>C (hg19) chr1:g.115768577T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768577T>C , CM000663.2:g.115768577T>C GRCh38
NC_000001.10:g.116311198T>C , CM000663.1:g.116311198T>C GRCh37
NC_000001.9:g.116112721T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-89A>G ENSP00000518226.1:n.-223-89A>G
ENST00000261448.6:c.-36A>G MANE Select ENSP00000261448.5:n.-36A>G
ENST00000261448.5:c.-36A>G ENSP00000261448.5:n.-36A>G
NM_001232.4:c.-36A>G MANE Select NP_001223.2:n.-36A>G
Search 100 bp 5'
Search 100 bp 3'