Canonical Allele Identifier: CA214966
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 16942
ClinVar RCV Id: RCV000018451
dbSNP Id: rs28931605
MyVariant Identifiers: chr2:g.208989018G>A (hg19) chr2:g.208124294G>A (hg38)
PubMed: PMID:17564961 PMID:17724170
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124294G>A , CM000664.2:g.208124294G>A GRCh38
NC_000002.11:g.208989018G>A , CM000664.1:g.208989018G>A GRCh37
NC_000002.10:g.208697263G>A NCBI36
NG_008039.1:g.5296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.70C>T MANE Select ENSP00000264376.4:p.Pro24Ser
ENST00000264376.4:c.70C>T ENSP00000264376.4:p.Pro24Ser
NM_006891.3:c.70C>T NP_008822.2:p.Pro24Ser
NR_038437.1:n.97+5069G>A
NM_006891.4:c.70C>T MANE Select NP_008822.2:p.Pro24Ser
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