Canonical Allele Identifier: CA350092518
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs771572996
gnomAD v2: 2-208988869-G-T
MyVariant Identifiers: chr2:g.208988869G>T (hg19) chr2:g.208124145G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124145G>T , CM000664.2:g.208124145G>T GRCh38
NC_000002.11:g.208988869G>T , CM000664.1:g.208988869G>T GRCh37
NC_000002.10:g.208697114G>T NCBI36
NG_008039.1:g.5445C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.219C>A MANE Select ENSP00000264376.4:p.Ser73Arg
ENST00000264376.4:c.219C>A ENSP00000264376.4:p.Ser73Arg
NM_006891.3:c.219C>A NP_008822.2:p.Ser73Arg
NR_038437.1:n.97+4920G>T
NM_006891.4:c.219C>A MANE Select NP_008822.2:p.Ser73Arg
Search 100 bp 5'
Search 100 bp 3'