Canonical Allele Identifier: CA350097164

Gene: CRYGC

Linked Data

• dbSNP Id: rs1278995349
• gnomAD v2: 2-208994281-A-G
• MyVariant Identifiers: chr2:g.208994281A>G (hg19) ; chr2:g.208129557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129557A>G , CM000664.2:g.208129557A>G	GRCh38
NC_000002.11:g.208994281A>G , CM000664.1:g.208994281A>G	GRCh37
NC_000002.10:g.208702526A>G	NCBI36
NG_008038.1:g.5274T>C
NG_008039.1:g.33T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.136T>C MANE Select	ENSP00000282141.3:p.Tyr46His
ENST00000282141.3:c.136T>C	ENSP00000282141.3:p.Tyr46His
NM_020989.3:c.136T>C	NP_066269.1:p.Tyr46His
NR_038437.1:n.98-7499A>G
XM_011510661.1:c.136T>C	XP_011508963.1:p.Tyr46His
XM_011510662.1:c.136T>C	XP_011508964.1:p.Tyr46His
XM_011510663.1:c.7T>C	XP_011508965.1:p.Tyr3His
NM_020989.4:c.136T>C MANE Select	NP_066269.1:p.Tyr46His