Canonical Allele Identifier: CA2077725

Gene: CRYGD

Linked Data

• dbSNP Id: rs560915157
• ExAC: 2:208988951 T / C
• gnomAD v2: 2-208988951-T-C
• gnomAD v3: 2-208124227-T-C
• gnomAD v4: 2-208124227-T-C
• MyVariant Identifiers: chr2:g.208988951T>C (hg19) ; chr2:g.208124227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208124227T>C , CM000664.2:g.208124227T>C	GRCh38
NC_000002.11:g.208988951T>C , CM000664.1:g.208988951T>C	GRCh37
NC_000002.10:g.208697196T>C	NCBI36
NG_008039.1:g.5363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264376.5:c.137A>G MANE Select	ENSP00000264376.4:p.Tyr46Cys
ENST00000264376.4:c.137A>G	ENSP00000264376.4:p.Tyr46Cys
NM_006891.3:c.137A>G	NP_008822.2:p.Tyr46Cys
NR_038437.1:n.97+5002T>C
NM_006891.4:c.137A>G MANE Select	NP_008822.2:p.Tyr46Cys