Canonical Allele Identifier: CA350092623
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124194-A-G
MyVariant Identifiers: chr2:g.208988918A>G (hg19) chr2:g.208124194A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124194A>G , CM000664.2:g.208124194A>G GRCh38
NC_000002.11:g.208988918A>G , CM000664.1:g.208988918A>G GRCh37
NC_000002.10:g.208697163A>G NCBI36
NG_008039.1:g.5396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.170T>C MANE Select ENSP00000264376.4:p.Phe57Ser
ENST00000264376.4:c.170T>C ENSP00000264376.4:p.Phe57Ser
NM_006891.3:c.170T>C NP_008822.2:p.Phe57Ser
NR_038437.1:n.97+4969A>G
NM_006891.4:c.170T>C MANE Select NP_008822.2:p.Phe57Ser
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