Canonical Allele Identifier: CA431116109
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994192G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129468G>C , CM000664.2:g.208129468G>C GRCh38
NC_000002.11:g.208994192G>C , CM000664.1:g.208994192G>C GRCh37
NC_000002.10:g.208702437G>C NCBI36
NG_008038.1:g.5363C>G
NG_008039.1:g.122C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.225C>G MANE Select ENSP00000282141.3:p.Ser75=
ENST00000282141.3:c.225C>G ENSP00000282141.3:p.Ser75=
NM_020989.3:c.225C>G NP_066269.1:p.Ser75=
NR_038437.1:n.98-7588G>C
XM_011510661.1:c.225C>G XP_011508963.1:p.Ser75=
XM_011510662.1:c.225C>G XP_011508964.1:p.Ser75=
XM_011510663.1:c.96C>G XP_011508965.1:p.Ser32=
NM_020989.4:c.225C>G MANE Select NP_066269.1:p.Ser75=