Canonical Allele Identifier: CA2077717
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 333874
ClinVar RCV Id: RCV000414998 RCV000859322 RCV001258237 RCV001636930 RCV003983020
dbSNP Id: rs202233735
ExAC: 2:208988920 G / C
gnomAD v2: 2-208988920-G-C
gnomAD v3: 2-208124196-G-C
gnomAD v4: 2-208124196-G-C
MyVariant Identifiers: chr2:g.208988920G>C (hg19) chr2:g.208124196G>C (hg38)
PubMed: PMID:19390652 PMID:22995991
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124196G>C , CM000664.2:g.208124196G>C GRCh38
NC_000002.11:g.208988920G>C , CM000664.1:g.208988920G>C GRCh37
NC_000002.10:g.208697165G>C NCBI36
NG_008039.1:g.5394C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264376.5:c.168C>G MANE Select ENSP00000264376.4:p.Tyr56Ter
ENST00000264376.4:c.168C>G ENSP00000264376.4:p.Tyr56Ter
NM_006891.3:c.168C>G NP_008822.2:p.Tyr56Ter
NR_038437.1:n.97+4971G>C
NM_006891.4:c.168C>G MANE Select NP_008822.2:p.Tyr56Ter
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