Canonical Allele Identifier: CA350092468
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1376685532
MyVariant Identifiers: chr2:g.208988844T>G (hg19) chr2:g.208124120T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124120T>G , CM000664.2:g.208124120T>G GRCh38
NC_000002.11:g.208988844T>G , CM000664.1:g.208988844T>G GRCh37
NC_000002.10:g.208697089T>G NCBI36
NG_008039.1:g.5470A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.244A>C MANE Select ENSP00000264376.4:p.Ile82Leu
ENST00000264376.4:c.244A>C ENSP00000264376.4:p.Ile82Leu
NM_006891.3:c.244A>C NP_008822.2:p.Ile82Leu
NR_038437.1:n.97+4895T>G
NM_006891.4:c.244A>C MANE Select NP_008822.2:p.Ile82Leu
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