Canonical Allele Identifier: CA350092695
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1694932404
MyVariant Identifiers: chr2:g.208988949C>T (hg19) chr2:g.208124225C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124225C>T , CM000664.2:g.208124225C>T GRCh38
NC_000002.11:g.208988949C>T , CM000664.1:g.208988949C>T GRCh37
NC_000002.10:g.208697194C>T NCBI36
NG_008039.1:g.5365G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.139G>A MANE Select ENSP00000264376.4:p.Glu47Lys
ENST00000264376.4:c.139G>A ENSP00000264376.4:p.Glu47Lys
NM_006891.3:c.139G>A NP_008822.2:p.Glu47Lys
NR_038437.1:n.97+5000C>T
NM_006891.4:c.139G>A MANE Select NP_008822.2:p.Glu47Lys
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