Canonical Allele Identifier: CA350092478
Gene: CRYGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208988850G>C (hg19) chr2:g.208124126G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124126G>C , CM000664.2:g.208124126G>C GRCh38
NC_000002.11:g.208988850G>C , CM000664.1:g.208988850G>C GRCh37
NC_000002.10:g.208697095G>C NCBI36
NG_008039.1:g.5464C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.238C>G MANE Select ENSP00000264376.4:p.Arg80Gly
ENST00000264376.4:c.238C>G ENSP00000264376.4:p.Arg80Gly
NM_006891.3:c.238C>G NP_008822.2:p.Arg80Gly
NR_038437.1:n.97+4901G>C
NM_006891.4:c.238C>G MANE Select NP_008822.2:p.Arg80Gly
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