Canonical Allele Identifier: CA350096712
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994241C>G (hg19) chr2:g.208129517C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129517C>G , CM000664.2:g.208129517C>G GRCh38
NC_000002.11:g.208994241C>G , CM000664.1:g.208994241C>G GRCh37
NC_000002.10:g.208702486C>G NCBI36
NG_008038.1:g.5314G>C
NG_008039.1:g.73G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.176G>C MANE Select ENSP00000282141.3:p.Arg59Pro
ENST00000282141.3:c.176G>C ENSP00000282141.3:p.Arg59Pro
NM_020989.3:c.176G>C NP_066269.1:p.Arg59Pro
NR_038437.1:n.98-7539C>G
XM_011510661.1:c.176G>C XP_011508963.1:p.Arg59Pro
XM_011510662.1:c.176G>C XP_011508964.1:p.Arg59Pro
XM_011510663.1:c.47G>C XP_011508965.1:p.Arg16Pro
NM_020989.4:c.176G>C MANE Select NP_066269.1:p.Arg59Pro
Search 100 bp 5'
Search 100 bp 3'