Canonical Allele Identifier: CA214963

Gene: CRYGD

Linked Data

• ClinVar Variation Id: 16940
• ClinVar RCV Id: RCV000018448 ; RCV000203330 ; RCV001596934 ; RCV001061709
• dbSNP Id: rs28931605
• gnomAD v2: 2-208989018-G-T
• gnomAD v4: 2-208124294-G-T
• COSMIC: COSM6413488
• MyVariant Identifiers: chr2:g.208989018G>T (hg19) ; chr2:g.208989018_208989020delinsTGT (hg19) ; chr2:g.208124294G>T (hg38) ; chr2:g.208124294_208124296delinsTGT (hg38)
• PubMed: PMID:12011157 ; PMID:12676897 ; PMID:17724170 ; PMID:26694549

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264376.5:c.70C>A MANE Select	ENSP00000264376.4:p.Pro24Thr
ENST00000264376.4:c.70C>A	ENSP00000264376.4:p.Pro24Thr
NM_006891.3:c.70C>A	NP_008822.2:p.Pro24Thr
NR_038437.1:n.97+5069G>T
NM_006891.4:c.70C>A MANE Select	NP_008822.2:p.Pro24Thr