Canonical Allele Identifier: CA2077920
Gene: CRYGC HGNC NCBI

Linked Data

ClinVar Variation Id: 2329584
ClinVar RCV Id: RCV002924787
dbSNP Id: rs770559969
ExAC: 2:208994197 C / T
gnomAD v2: 2-208994197-C-T
gnomAD v3: 2-208129473-C-T
gnomAD v4: 2-208129473-C-T
MyVariant Identifiers: chr2:g.208994197C>T (hg19) chr2:g.208129473C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129473C>T , CM000664.2:g.208129473C>T GRCh38
NC_000002.11:g.208994197C>T , CM000664.1:g.208994197C>T GRCh37
NC_000002.10:g.208702442C>T NCBI36
NG_008038.1:g.5358G>A
NG_008039.1:g.117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.220G>A MANE Select ENSP00000282141.3:p.Asp74Asn
ENST00000282141.3:c.220G>A ENSP00000282141.3:p.Asp74Asn
NM_020989.3:c.220G>A NP_066269.1:p.Asp74Asn
NR_038437.1:n.98-7583C>T
XM_011510661.1:c.220G>A XP_011508963.1:p.Asp74Asn
XM_011510662.1:c.220G>A XP_011508964.1:p.Asp74Asn
XM_011510663.1:c.91G>A XP_011508965.1:p.Asp31Asn
NM_020989.4:c.220G>A MANE Select NP_066269.1:p.Asp74Asn
Search 100 bp 5'
Search 100 bp 3'