Canonical Allele Identifier: CA885889838

Gene: CASQ2

Linked Data

• dbSNP Id: rs1400027071
• gnomAD v3: 1-115768218-T-C
• gnomAD v4: 1-115768218-T-C
• MyVariant Identifiers: chr1:g.116310839T>C (hg19) ; chr1:g.115768218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768218T>C , CM000663.2:g.115768218T>C	GRCh38
NC_000001.10:g.116310839T>C , CM000663.1:g.116310839T>C	GRCh37
NC_000001.9:g.116112362T>C	NCBI36
NG_008802.1:g.5588A>G , LRG_404:g.5588A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.-43+90A>G	ENSP00000518226.1:n.-43+90A>G
ENST00000261448.6:c.234+90A>G MANE Select	ENSP00000261448.5:n.234+90A>G
ENST00000261448.5:c.234+90A>G	ENSP00000261448.5:n.234+90A>G
NM_001232.3:c.234+90A>G , LRG_404t1:c.234+90A>G	NP_001223.2:n.234+90A>G
NM_001232.4:c.234+90A>G MANE Select	NP_001223.2:n.234+90A>G