Canonical Allele Identifier: CA350092636
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124199-C-G
MyVariant Identifiers: chr2:g.208988923C>G (hg19) chr2:g.208124199C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124199C>G , CM000664.2:g.208124199C>G GRCh38
NC_000002.11:g.208988923C>G , CM000664.1:g.208988923C>G GRCh37
NC_000002.10:g.208697168C>G NCBI36
NG_008039.1:g.5391G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264376.5:c.165G>C MANE Select ENSP00000264376.4:p.Gln55His
ENST00000264376.4:c.165G>C ENSP00000264376.4:p.Gln55His
NM_006891.3:c.165G>C NP_008822.2:p.Gln55His
NR_038437.1:n.97+4974C>G
NM_006891.4:c.165G>C MANE Select NP_008822.2:p.Gln55His
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