Canonical Allele Identifier: CA419896025
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 463660
ClinVar RCV Id: RCV001102444 RCV002526098
dbSNP Id: rs1373884863
gnomAD v2: 1-116310938-G-A
gnomAD v3: 1-115768317-G-A
gnomAD v4: 1-115768317-G-A
MyVariant Identifiers: chr1:g.116310938G>A (hg19) chr1:g.115768317G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768317G>A , CM000663.2:g.115768317G>A GRCh38
NC_000001.10:g.116310938G>A , CM000663.1:g.116310938G>A GRCh37
NC_000001.9:g.116112461G>A NCBI36
NG_008802.1:g.5489C>T , LRG_404:g.5489C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-52C>T ENSP00000518226.1:n.-52C>T
ENST00000261448.6:c.225C>T MANE Select ENSP00000261448.5:p.Ile75=
ENST00000261448.5:c.225C>T ENSP00000261448.5:p.Ile75=
NM_001232.3:c.225C>T , LRG_404t1:c.225C>T NP_001223.2:p.Ile75=
NM_001232.4:c.225C>T MANE Select NP_001223.2:p.Ile75=
Search 100 bp 5'
Search 100 bp 3'