Canonical Allele Identifier: CA885947895
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1217623011
MyVariant Identifiers: chr1:g.116273663T>C (hg19) chr1:g.115731042T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731042T>C , CM000663.2:g.115731042T>C GRCh38
NC_000001.10:g.116273663T>C , CM000663.1:g.116273663T>C GRCh37
NC_000001.9:g.116075186T>C NCBI36
NG_008802.1:g.42764A>G , LRG_404:g.42764A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.425+1072A>G ENSP00000518226.1:n.425+1072A>G
ENST00000261448.6:c.606+1859A>G MANE Select ENSP00000261448.5:n.606+1859A>G
ENST00000261448.5:c.606+1859A>G ENSP00000261448.5:n.606+1859A>G
ENST00000488931.1:n.122+1072A>G
NM_001232.3:c.606+1859A>G , LRG_404t1:c.606+1859A>G NP_001223.2:n.606+1859A>G
NM_001232.4:c.606+1859A>G MANE Select NP_001223.2:n.606+1859A>G
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