Canonical Allele Identifier: CA350093040
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124320-C-A
MyVariant Identifiers: chr2:g.208989044C>A (hg19) chr2:g.208124320C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124320C>A , CM000664.2:g.208124320C>A GRCh38
NC_000002.11:g.208989044C>A , CM000664.1:g.208989044C>A GRCh37
NC_000002.10:g.208697289C>A NCBI36
NG_008039.1:g.5270G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.44G>T MANE Select ENSP00000264376.4:p.Arg15Leu
ENST00000264376.4:c.44G>T ENSP00000264376.4:p.Arg15Leu
NM_006891.3:c.44G>T NP_008822.2:p.Arg15Leu
NR_038437.1:n.97+5095C>A
NM_006891.4:c.44G>T MANE Select NP_008822.2:p.Arg15Leu
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