Canonical Allele Identifier: CA350092812
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124279-A-G
MyVariant Identifiers: chr2:g.208989003A>G (hg19) chr2:g.208124279A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124279A>G , CM000664.2:g.208124279A>G GRCh38
NC_000002.11:g.208989003A>G , CM000664.1:g.208989003A>G GRCh37
NC_000002.10:g.208697248A>G NCBI36
NG_008039.1:g.5311T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.85T>C MANE Select ENSP00000264376.4:p.Tyr29His
ENST00000264376.4:c.85T>C ENSP00000264376.4:p.Tyr29His
NM_006891.3:c.85T>C NP_008822.2:p.Tyr29His
NR_038437.1:n.97+5054A>G
NM_006891.4:c.85T>C MANE Select NP_008822.2:p.Tyr29His
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