Canonical Allele Identifier: CA2077742
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 260062
ClinVar RCV Id: RCV000245673 RCV000397516 RCV000836482 RCV001513773
dbSNP Id: rs2242074
ExAC: 2:208989037 A / G
gnomAD v2: 2-208989037-A-G
gnomAD v3: 2-208124313-A-G
gnomAD v4: 2-208124313-A-G
MyVariant Identifiers: chr2:g.208989037A>G (hg19) chr2:g.208124313A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124313A>G , CM000664.2:g.208124313A>G GRCh38
NC_000002.11:g.208989037A>G , CM000664.1:g.208989037A>G GRCh37
NC_000002.10:g.208697282A>G NCBI36
NG_008039.1:g.5277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.51T>C MANE Select ENSP00000264376.4:p.Tyr17=
ENST00000264376.4:c.51T>C ENSP00000264376.4:p.Tyr17=
NM_006891.3:c.51T>C NP_008822.2:p.Tyr17=
NR_038437.1:n.97+5088A>G
NM_006891.4:c.51T>C MANE Select NP_008822.2:p.Tyr17=
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