Canonical Allele Identifier: CA350096722
Gene: CRYGC HGNC NCBI

Linked Data

dbSNP Id: rs1469741282
gnomAD v2: 2-208994242-G-A
gnomAD v4: 2-208129518-G-A
COSMIC: COSM209773
MyVariant Identifiers: chr2:g.208994242G>A (hg19) chr2:g.208129518G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129518G>A , CM000664.2:g.208129518G>A GRCh38
NC_000002.11:g.208994242G>A , CM000664.1:g.208994242G>A GRCh37
NC_000002.10:g.208702487G>A NCBI36
NG_008038.1:g.5313C>T
NG_008039.1:g.72C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.175C>T MANE Select ENSP00000282141.3:p.Arg59Trp
ENST00000282141.3:c.175C>T ENSP00000282141.3:p.Arg59Trp
NM_020989.3:c.175C>T NP_066269.1:p.Arg59Trp
NR_038437.1:n.98-7538G>A
XM_011510661.1:c.175C>T XP_011508963.1:p.Arg59Trp
XM_011510662.1:c.175C>T XP_011508964.1:p.Arg59Trp
XM_011510663.1:c.46C>T XP_011508965.1:p.Arg16Trp
NM_020989.4:c.175C>T MANE Select NP_066269.1:p.Arg59Trp
Search 100 bp 5'
Search 100 bp 3'