Canonical Allele Identifier: CA215000
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 68462
ClinVar RCV Id: RCV000059331
dbSNP Id: rs398122948
COSMIC: COSM4939912
MyVariant Identifiers: chr2:g.208986520G>T (hg19) chr2:g.208121796G>T (hg38)
PubMed: PMID:17724170
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208121796G>T , CM000664.2:g.208121796G>T GRCh38
NC_000002.11:g.208986520G>T , CM000664.1:g.208986520G>T GRCh37
NC_000002.10:g.208694765G>T NCBI36
NG_008039.1:g.7794C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264376.5:c.402C>A MANE Select ENSP00000264376.4:p.Tyr134Ter
ENST00000264376.4:c.402C>A ENSP00000264376.4:p.Tyr134Ter
NM_006891.3:c.402C>A NP_008822.2:p.Tyr134Ter
NR_038437.1:n.97+2571G>T
NM_006891.4:c.402C>A MANE Select NP_008822.2:p.Tyr134Ter
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