Canonical Allele Identifier: CA350097231
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994290A>G (hg19) chr2:g.208129566A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129566A>G , CM000664.2:g.208129566A>G GRCh38
NC_000002.11:g.208994290A>G , CM000664.1:g.208994290A>G GRCh37
NC_000002.10:g.208702535A>G NCBI36
NG_008038.1:g.5265T>C
NG_008039.1:g.24T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.127T>C MANE Select ENSP00000282141.3:p.Trp43Arg
ENST00000282141.3:c.127T>C ENSP00000282141.3:p.Trp43Arg
NM_020989.3:c.127T>C NP_066269.1:p.Trp43Arg
NR_038437.1:n.98-7490A>G
XM_011510661.1:c.127T>C XP_011508963.1:p.Trp43Arg
XM_011510662.1:c.127T>C XP_011508964.1:p.Trp43Arg
XM_011510663.1:c.-3T>C XP_011508965.1:n.-3T>C
NM_020989.4:c.127T>C MANE Select NP_066269.1:p.Trp43Arg
Search 100 bp 5'
Search 100 bp 3'