Canonical Allele Identifier: CA431116184
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994243C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129519C>T , CM000664.2:g.208129519C>T GRCh38
NC_000002.11:g.208994243C>T , CM000664.1:g.208994243C>T GRCh37
NC_000002.10:g.208702488C>T NCBI36
NG_008038.1:g.5312G>A
NG_008039.1:g.71G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.174G>A MANE Select ENSP00000282141.3:p.Leu58=
ENST00000282141.3:c.174G>A ENSP00000282141.3:p.Leu58=
NM_020989.3:c.174G>A NP_066269.1:p.Leu58=
NR_038437.1:n.98-7537C>T
XM_011510661.1:c.174G>A XP_011508963.1:p.Leu58=
XM_011510662.1:c.174G>A XP_011508964.1:p.Leu58=
XM_011510663.1:c.45G>A XP_011508965.1:p.Leu15=
NM_020989.4:c.174G>A MANE Select NP_066269.1:p.Leu58=