Canonical Allele Identifier: CA431116214

Gene: CRYGC

Linked Data

• COSMIC: COSM6270542
• MyVariant Identifiers: chr2:g.208994270G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129546G>T , CM000664.2:g.208129546G>T	GRCh38
NC_000002.11:g.208994270G>T , CM000664.1:g.208994270G>T	GRCh37
NC_000002.10:g.208702515G>T	NCBI36
NG_008038.1:g.5285C>A
NG_008039.1:g.44C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.147C>A MANE Select	ENSP00000282141.3:p.Pro49=
ENST00000282141.3:c.147C>A	ENSP00000282141.3:p.Pro49=
NM_020989.3:c.147C>A	NP_066269.1:p.Pro49=
NR_038437.1:n.98-7510G>T
XM_011510661.1:c.147C>A	XP_011508963.1:p.Pro49=
XM_011510662.1:c.147C>A	XP_011508964.1:p.Pro49=
XM_011510663.1:c.18C>A	XP_011508965.1:p.Pro6=
NM_020989.4:c.147C>A MANE Select	NP_066269.1:p.Pro49=