Canonical Allele Identifier: CA763924346
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1243350443
gnomAD v3: 2-208124113-TGG-T
gnomAD v4: 2-208124113-TGG-T
MyVariant Identifiers: chr2:g.208988838_208988839del (hg19) chr2:g.208124114_208124115del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124117_208124118del , CM000664.2:g.208124117_208124118del GRCh38
NC_000002.11:g.208988841_208988842del , CM000664.1:g.208988841_208988842del GRCh37
NC_000002.10:g.208697086_208697087del NCBI36
NG_008039.1:g.5475_5476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.249_250del MANE Select ENSP00000264376.4:p.His84LeufsTer10
ENST00000264376.4:c.249_250del ENSP00000264376.4:p.His84LeufsTer10
NM_006891.3:c.249_250del NP_008822.2:p.His84LeufsTer10
NR_038437.1:n.97+4892_97+4893del
NM_006891.4:c.249_250del MANE Select NP_008822.2:p.His84LeufsTer10
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