Canonical Allele Identifier: CA2077696
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs372878552
ExAC: 2:208988838 G / A
gnomAD v2: 2-208988838-G-A
gnomAD v3: 2-208124114-G-A
gnomAD v4: 2-208124114-G-A
MyVariant Identifiers: chr2:g.208988838G>A (hg19) chr2:g.208124114G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124114G>A , CM000664.2:g.208124114G>A GRCh38
NC_000002.11:g.208988838G>A , CM000664.1:g.208988838G>A GRCh37
NC_000002.10:g.208697083G>A NCBI36
NG_008039.1:g.5476C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.250C>T MANE Select ENSP00000264376.4:p.His84Tyr
ENST00000264376.4:c.250C>T ENSP00000264376.4:p.His84Tyr
NM_006891.3:c.250C>T NP_008822.2:p.His84Tyr
NR_038437.1:n.97+4889G>A
NM_006891.4:c.250C>T MANE Select NP_008822.2:p.His84Tyr
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