Canonical Allele Identifier: CA2077939
Gene: CRYGC HGNC NCBI

Linked Data

ClinVar Variation Id: 2080946
ClinVar RCV Id: RCV002979591
dbSNP Id: rs201568695
ExAC: 2:208994275 G / A
gnomAD v2: 2-208994275-G-A
gnomAD v3: 2-208129551-G-A
gnomAD v4: 2-208129551-G-A
COSMIC: COSM1015565
MyVariant Identifiers: chr2:g.208994275G>A (hg19) chr2:g.208129551G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129551G>A , CM000664.2:g.208129551G>A GRCh38
NC_000002.11:g.208994275G>A , CM000664.1:g.208994275G>A GRCh37
NC_000002.10:g.208702520G>A NCBI36
NG_008038.1:g.5280C>T
NG_008039.1:g.39C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.142C>T MANE Select ENSP00000282141.3:p.Arg48Cys
ENST00000282141.3:c.142C>T ENSP00000282141.3:p.Arg48Cys
NM_020989.3:c.142C>T NP_066269.1:p.Arg48Cys
NR_038437.1:n.98-7505G>A
XM_011510661.1:c.142C>T XP_011508963.1:p.Arg48Cys
XM_011510662.1:c.142C>T XP_011508964.1:p.Arg48Cys
XM_011510663.1:c.13C>T XP_011508965.1:p.Arg5Cys
NM_020989.4:c.142C>T MANE Select NP_066269.1:p.Arg48Cys
Search 100 bp 5'
Search 100 bp 3'