Canonical Allele Identifier: CA2077950
Gene: CRYGC HGNC NCBI

Linked Data

ClinVar Variation Id: 2373950
ClinVar RCV Id: RCV002992991
dbSNP Id: rs752526840
ExAC: 2:208994320 A / G
gnomAD v2: 2-208994320-A-G
gnomAD v3: 2-208129596-A-G
gnomAD v4: 2-208129596-A-G
MyVariant Identifiers: chr2:g.208994320A>G (hg19) chr2:g.208129596A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129596A>G , CM000664.2:g.208129596A>G GRCh38
NC_000002.11:g.208994320A>G , CM000664.1:g.208994320A>G GRCh37
NC_000002.10:g.208702565A>G NCBI36
NG_008038.1:g.5235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.97T>C MANE Select ENSP00000282141.3:p.Cys33Arg
ENST00000282141.3:c.97T>C ENSP00000282141.3:p.Cys33Arg
NM_020989.3:c.97T>C NP_066269.1:p.Cys33Arg
NR_038437.1:n.98-7460A>G
XM_011510661.1:c.97T>C XP_011508963.1:p.Cys33Arg
XM_011510662.1:c.97T>C XP_011508964.1:p.Cys33Arg
XM_011510663.1:c.-33T>C XP_011508965.1:n.-33T>C
NM_020989.4:c.97T>C MANE Select NP_066269.1:p.Cys33Arg
Search 100 bp 5'
Search 100 bp 3'