Canonical Allele Identifier: CA350092509
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 2632968
ClinVar RCV Id: RCV003391472
MyVariant Identifiers: chr2:g.208988865A>G (hg19) chr2:g.208124141A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124141A>G , CM000664.2:g.208124141A>G GRCh38
NC_000002.11:g.208988865A>G , CM000664.1:g.208988865A>G GRCh37
NC_000002.10:g.208697110A>G NCBI36
NG_008039.1:g.5449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.223T>C MANE Select ENSP00000264376.4:p.Ser75Pro
ENST00000264376.4:c.223T>C ENSP00000264376.4:p.Ser75Pro
NM_006891.3:c.223T>C NP_008822.2:p.Ser75Pro
NR_038437.1:n.97+4916A>G
NM_006891.4:c.223T>C MANE Select NP_008822.2:p.Ser75Pro
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