Canonical Allele Identifier: CA350097136
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994277T>G (hg19) chr2:g.208129553T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129553T>G , CM000664.2:g.208129553T>G GRCh38
NC_000002.11:g.208994277T>G , CM000664.1:g.208994277T>G GRCh37
NC_000002.10:g.208702522T>G NCBI36
NG_008038.1:g.5278A>C
NG_008039.1:g.37A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.140A>C MANE Select ENSP00000282141.3:p.Glu47Ala
ENST00000282141.3:c.140A>C ENSP00000282141.3:p.Glu47Ala
NM_020989.3:c.140A>C NP_066269.1:p.Glu47Ala
NR_038437.1:n.98-7503T>G
XM_011510661.1:c.140A>C XP_011508963.1:p.Glu47Ala
XM_011510662.1:c.140A>C XP_011508964.1:p.Glu47Ala
XM_011510663.1:c.11A>C XP_011508965.1:p.Glu4Ala
NM_020989.4:c.140A>C MANE Select NP_066269.1:p.Glu47Ala
Search 100 bp 5'
Search 100 bp 3'