Canonical Allele Identifier: CA2077747
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs769419095
ExAC: 2:208989058 C / G
gnomAD v2: 2-208989058-C-G
gnomAD v4: 2-208124334-C-G
MyVariant Identifiers: chr2:g.208989058C>G (hg19) chr2:g.208124334C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124334C>G , CM000664.2:g.208124334C>G GRCh38
NC_000002.11:g.208989058C>G , CM000664.1:g.208989058C>G GRCh37
NC_000002.10:g.208697303C>G NCBI36
NG_008039.1:g.5256G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.30G>C MANE Select ENSP00000264376.4:p.Arg10=
ENST00000264376.4:c.30G>C ENSP00000264376.4:p.Arg10=
NM_006891.3:c.30G>C NP_008822.2:p.Arg10=
NR_038437.1:n.97+5109C>G
NM_006891.4:c.30G>C MANE Select NP_008822.2:p.Arg10=
Search 100 bp 5'
Search 100 bp 3'