Canonical Allele Identifier: CA350092946
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1694935318
gnomAD v3: 2-208124305-C-G
gnomAD v4: 2-208124305-C-G
MyVariant Identifiers: chr2:g.208989029C>G (hg19) chr2:g.208124305C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124305C>G , CM000664.2:g.208124305C>G GRCh38
NC_000002.11:g.208989029C>G , CM000664.1:g.208989029C>G GRCh37
NC_000002.10:g.208697274C>G NCBI36
NG_008039.1:g.5285G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.59G>C MANE Select ENSP00000264376.4:p.Ser20Thr
ENST00000264376.4:c.59G>C ENSP00000264376.4:p.Ser20Thr
NM_006891.3:c.59G>C NP_008822.2:p.Ser20Thr
NR_038437.1:n.97+5080C>G
NM_006891.4:c.59G>C MANE Select NP_008822.2:p.Ser20Thr
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