Canonical Allele Identifier: CA2077719
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs754775969
ExAC: 2:208988924 T / C
gnomAD v2: 2-208988924-T-C
gnomAD v4: 2-208124200-T-C
MyVariant Identifiers: chr2:g.208988924T>C (hg19) chr2:g.208124200T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124200T>C , CM000664.2:g.208124200T>C GRCh38
NC_000002.11:g.208988924T>C , CM000664.1:g.208988924T>C GRCh37
NC_000002.10:g.208697169T>C NCBI36
NG_008039.1:g.5390A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.164A>G MANE Select ENSP00000264376.4:p.Gln55Arg
ENST00000264376.4:c.164A>G ENSP00000264376.4:p.Gln55Arg
NM_006891.3:c.164A>G NP_008822.2:p.Gln55Arg
NR_038437.1:n.97+4975T>C
NM_006891.4:c.164A>G MANE Select NP_008822.2:p.Gln55Arg
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