Canonical Allele Identifier: CA350092751
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1198526626
gnomAD v2: 2-208988976-C-T
gnomAD v4: 2-208124252-C-T
COSMIC: COSM5639013
MyVariant Identifiers: chr2:g.208988976C>T (hg19) chr2:g.208124252C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124252C>T , CM000664.2:g.208124252C>T GRCh38
NC_000002.11:g.208988976C>T , CM000664.1:g.208988976C>T GRCh37
NC_000002.10:g.208697221C>T NCBI36
NG_008039.1:g.5338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.112G>A MANE Select ENSP00000264376.4:p.Val38Met
ENST00000264376.4:c.112G>A ENSP00000264376.4:p.Val38Met
NM_006891.3:c.112G>A NP_008822.2:p.Val38Met
NR_038437.1:n.97+5027C>T
NM_006891.4:c.112G>A MANE Select NP_008822.2:p.Val38Met
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