Canonical Allele Identifier: CA431116187
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994246C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129522C>T , CM000664.2:g.208129522C>T GRCh38
NC_000002.11:g.208994246C>T , CM000664.1:g.208994246C>T GRCh37
NC_000002.10:g.208702491C>T NCBI36
NG_008038.1:g.5309G>A
NG_008039.1:g.68G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.171G>A MANE Select ENSP00000282141.3:p.Leu57=
ENST00000282141.3:c.171G>A ENSP00000282141.3:p.Leu57=
NM_020989.3:c.171G>A NP_066269.1:p.Leu57=
NR_038437.1:n.98-7534C>T
XM_011510661.1:c.171G>A XP_011508963.1:p.Leu57=
XM_011510662.1:c.171G>A XP_011508964.1:p.Leu57=
XM_011510663.1:c.42G>A XP_011508965.1:p.Leu14=
NM_020989.4:c.171G>A MANE Select NP_066269.1:p.Leu57=