Canonical Allele Identifier: CA341766969
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs781778467
MyVariant Identifiers: chr1:g.116310934G>C (hg19) chr1:g.115768313G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768313G>C , CM000663.2:g.115768313G>C GRCh38
NC_000001.10:g.116310934G>C , CM000663.1:g.116310934G>C GRCh37
NC_000001.9:g.116112457G>C NCBI36
NG_008802.1:g.5493C>G , LRG_404:g.5493C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-48C>G ENSP00000518226.1:n.-48C>G
ENST00000261448.6:c.229C>G MANE Select ENSP00000261448.5:p.Leu77Val
ENST00000261448.5:c.229C>G ENSP00000261448.5:p.Leu77Val
NM_001232.3:c.229C>G , LRG_404t1:c.229C>G NP_001223.2:p.Leu77Val
NM_001232.4:c.229C>G MANE Select NP_001223.2:p.Leu77Val
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Search 100 bp 3'