Canonical Allele Identifier: CA341767245
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768433-G-A
MyVariant Identifiers: chr1:g.116311054G>A (hg19) chr1:g.115768433G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768433G>A , CM000663.2:g.115768433G>A GRCh38
NC_000001.10:g.116311054G>A , CM000663.1:g.116311054G>A GRCh37
NC_000001.9:g.116112577G>A NCBI36
NG_008802.1:g.5373C>T , LRG_404:g.5373C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-168C>T ENSP00000518226.1:n.-168C>T
ENST00000261448.6:c.109C>T MANE Select ENSP00000261448.5:p.Leu37Phe
ENST00000261448.5:c.109C>T ENSP00000261448.5:p.Leu37Phe
NM_001232.3:c.109C>T , LRG_404t1:c.109C>T NP_001223.2:p.Leu37Phe
NM_001232.4:c.109C>T MANE Select NP_001223.2:p.Leu37Phe
Search 100 bp 5'
Search 100 bp 3'