Canonical Allele Identifier: CA350097168

Gene: CRYGC

Linked Data

• MyVariant Identifiers: chr2:g.208994283A>T (hg19) ; chr2:g.208129559A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129559A>T , CM000664.2:g.208129559A>T	GRCh38
NC_000002.11:g.208994283A>T , CM000664.1:g.208994283A>T	GRCh37
NC_000002.10:g.208702528A>T	NCBI36
NG_008038.1:g.5272T>A
NG_008039.1:g.31T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.134T>A MANE Select	ENSP00000282141.3:p.Leu45His
ENST00000282141.3:c.134T>A	ENSP00000282141.3:p.Leu45His
NM_020989.3:c.134T>A	NP_066269.1:p.Leu45His
NR_038437.1:n.98-7497A>T
XM_011510661.1:c.134T>A	XP_011508963.1:p.Leu45His
XM_011510662.1:c.134T>A	XP_011508964.1:p.Leu45His
XM_011510663.1:c.5T>A	XP_011508965.1:p.Leu2His
NM_020989.4:c.134T>A MANE Select	NP_066269.1:p.Leu45His