Canonical Allele Identifier: CA2077698
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs751507712
ExAC: 2:208988842 GA / G
gnomAD v2: 2-208988842-GA-G
gnomAD v3: 2-208124118-GA-G
gnomAD v4: 2-208124118-GA-G
MyVariant Identifiers: chr2:g.208988843del (hg19) chr2:g.208124119del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124119del , CM000664.2:g.208124119del GRCh38
NC_000002.11:g.208988843del , CM000664.1:g.208988843del GRCh37
NC_000002.10:g.208697088del NCBI36
NG_008039.1:g.5471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.245del MANE Select ENSP00000264376.4:p.Ile82ThrfsTer21
ENST00000264376.4:c.245del ENSP00000264376.4:p.Ile82ThrfsTer21
NM_006891.3:c.245del NP_008822.2:p.Ile82ThrfsTer21
NR_038437.1:n.97+4894del
NM_006891.4:c.245del MANE Select NP_008822.2:p.Ile82ThrfsTer21
Search 100 bp 5'
Search 100 bp 3'