Canonical Allele Identifier: CA2077700
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 1147525
ClinVar RCV Id: RCV001487057
dbSNP Id: rs201111017
ExAC: 2:208988848 G / A
gnomAD v2: 2-208988848-G-A
gnomAD v3: 2-208124124-G-A
gnomAD v4: 2-208124124-G-A
MyVariant Identifiers: chr2:g.208988848G>A (hg19) chr2:g.208124124G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124124G>A , CM000664.2:g.208124124G>A GRCh38
NC_000002.11:g.208988848G>A , CM000664.1:g.208988848G>A GRCh37
NC_000002.10:g.208697093G>A NCBI36
NG_008039.1:g.5466C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.240C>T MANE Select ENSP00000264376.4:p.Arg80=
ENST00000264376.4:c.240C>T ENSP00000264376.4:p.Arg80=
NM_006891.3:c.240C>T NP_008822.2:p.Arg80=
NR_038437.1:n.97+4899G>A
NM_006891.4:c.240C>T MANE Select NP_008822.2:p.Arg80=
Search 100 bp 5'
Search 100 bp 3'