Canonical Allele Identifier: CA525433040

Gene: CASQ2

Linked Data

• dbSNP Id: rs549339139
• gnomAD v2: 1-116273698-C-G
• gnomAD v3: 1-115731077-C-G
• gnomAD v4: 1-115731077-C-G
• MyVariant Identifiers: chr1:g.116273698C>G (hg19) ; chr1:g.115731077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115731077C>G , CM000663.2:g.115731077C>G	GRCh38
NC_000001.10:g.116273698C>G , CM000663.1:g.116273698C>G	GRCh37
NC_000001.9:g.116075221C>G	NCBI36
NG_008802.1:g.42729G>C , LRG_404:g.42729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.425+1037G>C	ENSP00000518226.1:n.425+1037G>C
ENST00000261448.6:c.606+1824G>C MANE Select	ENSP00000261448.5:n.606+1824G>C
ENST00000261448.5:c.606+1824G>C	ENSP00000261448.5:n.606+1824G>C
ENST00000488931.1:n.122+1037G>C
NM_001232.3:c.606+1824G>C , LRG_404t1:c.606+1824G>C	NP_001223.2:n.606+1824G>C
NM_001232.4:c.606+1824G>C MANE Select	NP_001223.2:n.606+1824G>C