Canonical Allele Identifier: CA29639095
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs140438391
gnomAD v2: 1-116273844-T-G
gnomAD v3: 1-115731223-T-G
gnomAD v4: 1-115731223-T-G
MyVariant Identifiers: chr1:g.116273844T>G (hg19) chr1:g.115731223T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731223T>G , CM000663.2:g.115731223T>G GRCh38
NC_000001.10:g.116273844T>G , CM000663.1:g.116273844T>G GRCh37
NC_000001.9:g.116075367T>G NCBI36
NG_008802.1:g.42583A>C , LRG_404:g.42583A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+891A>C ENSP00000518226.1:n.425+891A>C
ENST00000261448.6:c.606+1678A>C MANE Select ENSP00000261448.5:n.606+1678A>C
ENST00000261448.5:c.606+1678A>C ENSP00000261448.5:n.606+1678A>C
ENST00000488931.1:n.122+891A>C
NM_001232.3:c.606+1678A>C , LRG_404t1:c.606+1678A>C NP_001223.2:n.606+1678A>C
NM_001232.4:c.606+1678A>C MANE Select NP_001223.2:n.606+1678A>C
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