Canonical Allele Identifier: CA350096389
Gene: CRYGC HGNC NCBI

Linked Data

gnomAD v4: 2-208129488-A-G
MyVariant Identifiers: chr2:g.208994212A>G (hg19) chr2:g.208129488A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129488A>G , CM000664.2:g.208129488A>G GRCh38
NC_000002.11:g.208994212A>G , CM000664.1:g.208994212A>G GRCh37
NC_000002.10:g.208702457A>G NCBI36
NG_008038.1:g.5343T>C
NG_008039.1:g.102T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.205T>C MANE Select ENSP00000282141.3:p.Trp69Arg
ENST00000282141.3:c.205T>C ENSP00000282141.3:p.Trp69Arg
NM_020989.3:c.205T>C NP_066269.1:p.Trp69Arg
NR_038437.1:n.98-7568A>G
XM_011510661.1:c.205T>C XP_011508963.1:p.Trp69Arg
XM_011510662.1:c.205T>C XP_011508964.1:p.Trp69Arg
XM_011510663.1:c.76T>C XP_011508965.1:p.Trp26Arg
NM_020989.4:c.205T>C MANE Select NP_066269.1:p.Trp69Arg
Search 100 bp 5'
Search 100 bp 3'