Canonical Allele Identifier: CA350092528
Gene: CRYGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208988874G>A (hg19) chr2:g.208124150G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124150G>A , CM000664.2:g.208124150G>A GRCh38
NC_000002.11:g.208988874G>A , CM000664.1:g.208988874G>A GRCh37
NC_000002.10:g.208697119G>A NCBI36
NG_008039.1:g.5440C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.214C>T MANE Select ENSP00000264376.4:p.Leu72Phe
ENST00000264376.4:c.214C>T ENSP00000264376.4:p.Leu72Phe
NM_006891.3:c.214C>T NP_008822.2:p.Leu72Phe
NR_038437.1:n.97+4925G>A
NM_006891.4:c.214C>T MANE Select NP_008822.2:p.Leu72Phe
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