Canonical Allele Identifier: CA350092455
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124114-G-T
MyVariant Identifiers: chr2:g.208988838G>T (hg19) chr2:g.208124114G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.250C>A MANE Select ENSP00000264376.4:p.His84Asn
ENST00000264376.4:c.250C>A ENSP00000264376.4:p.His84Asn
NM_006891.3:c.250C>A NP_008822.2:p.His84Asn
NR_038437.1:n.97+4889G>T
NM_006891.4:c.250C>A MANE Select NP_008822.2:p.His84Asn
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