Canonical Allele Identifier: CA29603886
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs908624850
gnomAD v2: 1-116281119-C-A
gnomAD v3: 1-115738498-C-A
gnomAD v4: 1-115738498-C-A
MyVariant Identifiers: chr1:g.116281119C>A (hg19) chr1:g.115738498C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738498C>A , CM000663.2:g.115738498C>A GRCh38
NC_000001.10:g.116281119C>A , CM000663.1:g.116281119C>A GRCh37
NC_000001.9:g.116082642C>A NCBI36
NG_008802.1:g.35308G>T , LRG_404:g.35308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-163G>T ENSP00000518226.1:n.145-163G>T
ENST00000261448.6:c.421-163G>T MANE Select ENSP00000261448.5:n.421-163G>T
ENST00000261448.5:c.421-163G>T ENSP00000261448.5:n.421-163G>T
NM_001232.3:c.421-163G>T , LRG_404t1:c.421-163G>T NP_001223.2:n.421-163G>T
NM_001232.4:c.421-163G>T MANE Select NP_001223.2:n.421-163G>T
Search 100 bp 5'
Search 100 bp 3'