Canonical Allele Identifier: CA350092508
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124141-A-C
MyVariant Identifiers: chr2:g.208988865A>C (hg19) chr2:g.208124141A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.223T>G MANE Select ENSP00000264376.4:p.Ser75Ala
ENST00000264376.4:c.223T>G ENSP00000264376.4:p.Ser75Ala
NM_006891.3:c.223T>G NP_008822.2:p.Ser75Ala
NR_038437.1:n.97+4916A>C
NM_006891.4:c.223T>G MANE Select NP_008822.2:p.Ser75Ala
Search 100 bp 5'
Search 100 bp 3'