Canonical Allele Identifier: CA2077936
Gene: CRYGC HGNC NCBI

Linked Data

ClinVar Variation Id: 2440575
ClinVar RCV Id: RCV003143367
dbSNP Id: rs746520767
ExAC: 2:208994268 T / C
gnomAD v2: 2-208994268-T-C
gnomAD v3: 2-208129544-T-C
gnomAD v4: 2-208129544-T-C
MyVariant Identifiers: chr2:g.208994268T>C (hg19) chr2:g.208129544T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129544T>C , CM000664.2:g.208129544T>C GRCh38
NC_000002.11:g.208994268T>C , CM000664.1:g.208994268T>C GRCh37
NC_000002.10:g.208702513T>C NCBI36
NG_008038.1:g.5287A>G
NG_008039.1:g.46A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.149A>G MANE Select ENSP00000282141.3:p.Asn50Ser
ENST00000282141.3:c.149A>G ENSP00000282141.3:p.Asn50Ser
NM_020989.3:c.149A>G NP_066269.1:p.Asn50Ser
NR_038437.1:n.98-7512T>C
XM_011510661.1:c.149A>G XP_011508963.1:p.Asn50Ser
XM_011510662.1:c.149A>G XP_011508964.1:p.Asn50Ser
XM_011510663.1:c.20A>G XP_011508965.1:p.Asn7Ser
NM_020989.4:c.149A>G MANE Select NP_066269.1:p.Asn50Ser
Search 100 bp 5'
Search 100 bp 3'