Canonical Allele Identifier: CA29624963

Gene: CASQ2

Linked Data

• dbSNP Id: rs1006083796
• gnomAD v2: 1-116310860-C-G
• gnomAD v3: 1-115768239-C-G
• gnomAD v4: 1-115768239-C-G
• MyVariant Identifiers: chr1:g.116310860C>G (hg19) ; chr1:g.115768239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768239C>G , CM000663.2:g.115768239C>G	GRCh38
NC_000001.10:g.116310860C>G , CM000663.1:g.116310860C>G	GRCh37
NC_000001.9:g.116112383C>G	NCBI36
NG_008802.1:g.5567G>C , LRG_404:g.5567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-43+69G>C	ENSP00000518226.1:n.-43+69G>C
ENST00000261448.6:c.234+69G>C MANE Select	ENSP00000261448.5:n.234+69G>C
ENST00000261448.5:c.234+69G>C	ENSP00000261448.5:n.234+69G>C
NM_001232.3:c.234+69G>C , LRG_404t1:c.234+69G>C	NP_001223.2:n.234+69G>C
NM_001232.4:c.234+69G>C MANE Select	NP_001223.2:n.234+69G>C