Canonical Allele Identifier: CA2077737
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs372704290
ExAC: 2:208989007 C / T
gnomAD v2: 2-208989007-C-T
gnomAD v3: 2-208124283-C-T
gnomAD v4: 2-208124283-C-T
MyVariant Identifiers: chr2:g.208989007C>T (hg19) chr2:g.208124283C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124283C>T , CM000664.2:g.208124283C>T GRCh38
NC_000002.11:g.208989007C>T , CM000664.1:g.208989007C>T GRCh37
NC_000002.10:g.208697252C>T NCBI36
NG_008039.1:g.5307G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.81G>A MANE Select ENSP00000264376.4:p.Gln27=
ENST00000264376.4:c.81G>A ENSP00000264376.4:p.Gln27=
NM_006891.3:c.81G>A NP_008822.2:p.Gln27=
NR_038437.1:n.97+5058C>T
NM_006891.4:c.81G>A MANE Select NP_008822.2:p.Gln27=
Search 100 bp 5'
Search 100 bp 3'