Canonical Allele Identifier: CA1023979

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 2793762
• ClinVar RCV Id: RCV003639497
• dbSNP Id: rs753529543
• ExAC: 1:116310912 G / A
• gnomAD v2: 1-116310912-G-A
• gnomAD v4: 1-115768291-G-A
• MyVariant Identifiers: chr1:g.116310912G>A (hg19) ; chr1:g.115768291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768291G>A , CM000663.2:g.115768291G>A	GRCh38
NC_000001.10:g.116310912G>A , CM000663.1:g.116310912G>A	GRCh37
NC_000001.9:g.116112435G>A	NCBI36
NG_008802.1:g.5515C>T , LRG_404:g.5515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-43+17C>T	ENSP00000518226.1:n.-43+17C>T
ENST00000261448.6:c.234+17C>T MANE Select	ENSP00000261448.5:n.234+17C>T
ENST00000261448.5:c.234+17C>T	ENSP00000261448.5:n.234+17C>T
NM_001232.3:c.234+17C>T , LRG_404t1:c.234+17C>T	NP_001223.2:n.234+17C>T
NM_001232.4:c.234+17C>T MANE Select	NP_001223.2:n.234+17C>T