Canonical Allele Identifier: CA350092800
Gene: CRYGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208988999A>C (hg19) chr2:g.208124275A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124275A>C , CM000664.2:g.208124275A>C GRCh38
NC_000002.11:g.208988999A>C , CM000664.1:g.208988999A>C GRCh37
NC_000002.10:g.208697244A>C NCBI36
NG_008039.1:g.5315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.89T>G MANE Select ENSP00000264376.4:p.Leu30Trp
ENST00000264376.4:c.89T>G ENSP00000264376.4:p.Leu30Trp
NM_006891.3:c.89T>G NP_008822.2:p.Leu30Trp
NR_038437.1:n.97+5050A>C
NM_006891.4:c.89T>G MANE Select NP_008822.2:p.Leu30Trp
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