Canonical Allele Identifier: CA341769080
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2096467
ClinVar RCV Id: RCV003028223
MyVariant Identifiers: chr1:g.116275590T>G (hg19) chr1:g.115732969T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732969T>G , CM000663.2:g.115732969T>G GRCh38
NC_000001.10:g.116275590T>G , CM000663.1:g.116275590T>G GRCh37
NC_000001.9:g.116077113T>G NCBI36
NG_008802.1:g.40837A>C , LRG_404:g.40837A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.262A>C ENSP00000518226.1:p.Lys88Gln
ENST00000261448.6:c.538A>C MANE Select ENSP00000261448.5:p.Lys180Gln
ENST00000261448.5:c.538A>C ENSP00000261448.5:p.Lys180Gln
NM_001232.3:c.538A>C , LRG_404t1:c.538A>C NP_001223.2:p.Lys180Gln
NM_001232.4:c.538A>C MANE Select NP_001223.2:p.Lys180Gln
Search 100 bp 5'
Search 100 bp 3'