Canonical Allele Identifier: CA2077926

Gene: CRYGC

Linked Data

• dbSNP Id: rs764211247
• ExAC: 2:208994227 G / T
• COSMIC: COSM6090372
• MyVariant Identifiers: chr2:g.208994227G>T (hg19) ; chr2:g.208129503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129503G>T , CM000664.2:g.208129503G>T	GRCh38
NC_000002.11:g.208994227G>T , CM000664.1:g.208994227G>T	GRCh37
NC_000002.10:g.208702472G>T	NCBI36
NG_008038.1:g.5328C>A
NG_008039.1:g.87C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.190C>A MANE Select	ENSP00000282141.3:p.Pro64Thr
ENST00000282141.3:c.190C>A	ENSP00000282141.3:p.Pro64Thr
NM_020989.3:c.190C>A	NP_066269.1:p.Pro64Thr
NR_038437.1:n.98-7553G>T
XM_011510661.1:c.190C>A	XP_011508963.1:p.Pro64Thr
XM_011510662.1:c.190C>A	XP_011508964.1:p.Pro64Thr
XM_011510663.1:c.61C>A	XP_011508965.1:p.Pro21Thr
NM_020989.4:c.190C>A MANE Select	NP_066269.1:p.Pro64Thr