Canonical Allele Identifier: CA2077717

Gene: CRYGD

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

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