Canonical Allele Identifier: CA2077689
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs766184364
ExAC: 2:208988823 A / AGGATGTACTCACGTGGG
gnomAD v2: 2-208988823-A-AGGATGTACTCACGTGGG
gnomAD v4: 2-208124099-A-AGGATGTACTCACGTGGG
MyVariant Identifiers: chr2:g.208988823_208988824insGGATGTACTCACGTGGG (hg19) chr2:g.208124099_208124100insGGATGTACTCACGTGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124105_208124121dup , CM000664.2:g.208124105_208124121dup GRCh38
NC_000002.11:g.208988829_208988845dup , CM000664.1:g.208988829_208988845dup GRCh37
NC_000002.10:g.208697074_208697090dup NCBI36
NG_008039.1:g.5474_5490dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.248_252+12dup
ENST00000264376.4:c.248_252+12dup
NM_006891.3:c.248_252+12dup
NR_038437.1:n.97+4880_97+4896dup
NM_006891.4:c.248_252+12dup
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