Canonical Allele Identifier: CA1024019
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs747029273
ExAC: 1:116311197 C / T
gnomAD v2: 1-116311197-C-T
gnomAD v4: 1-115768576-C-T
MyVariant Identifiers: chr1:g.116311197C>T (hg19) chr1:g.115768576C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768576C>T , CM000663.2:g.115768576C>T GRCh38
NC_000001.10:g.116311197C>T , CM000663.1:g.116311197C>T GRCh37
NC_000001.9:g.116112720C>T NCBI36
NG_008802.1:g.5230G>A , LRG_404:g.5230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-88G>A ENSP00000518226.1:n.-223-88G>A
ENST00000261448.6:c.-35G>A MANE Select ENSP00000261448.5:n.-35G>A
ENST00000261448.5:c.-35G>A ENSP00000261448.5:n.-35G>A
NM_001232.3:c.-35G>A , LRG_404t1:c.-35G>A NP_001223.2:n.-35G>A
NM_001232.4:c.-35G>A MANE Select NP_001223.2:n.-35G>A
Search 100 bp 5'
Search 100 bp 3'