Canonical Allele Identifier: CA341767247
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768434-A-T
MyVariant Identifiers: chr1:g.116311055A>T (hg19) chr1:g.115768434A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768434A>T , CM000663.2:g.115768434A>T GRCh38
NC_000001.10:g.116311055A>T , CM000663.1:g.116311055A>T GRCh37
NC_000001.9:g.116112578A>T NCBI36
NG_008802.1:g.5372T>A , LRG_404:g.5372T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-169T>A ENSP00000518226.1:n.-169T>A
ENST00000261448.6:c.108T>A MANE Select ENSP00000261448.5:p.Ser36Arg
ENST00000261448.5:c.108T>A ENSP00000261448.5:p.Ser36Arg
NM_001232.3:c.108T>A , LRG_404t1:c.108T>A NP_001223.2:p.Ser36Arg
NM_001232.4:c.108T>A MANE Select NP_001223.2:p.Ser36Arg
Search 100 bp 5'
Search 100 bp 3'