Canonical Allele Identifier: CA130941

Gene: CRYGB

Linked Data

• ClinVar Variation Id: 41988
• ClinVar RCV Id: RCV000034855 ; RCV001610310
• dbSNP Id: rs3214759
• ExAC: 2:209010777 GC / G
• gnomAD v2: 2-209010777-GC-G
• gnomAD v3: 2-208146053-GC-G
• gnomAD v4: 2-208146053-GC-G
• MyVariant Identifiers: chr2:g.209010778del (hg19) ; chr2:g.208146054del (hg38)
• PubMed: PMID:23288985

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208146058del , CM000664.2:g.208146058del	GRCh38
NC_000002.11:g.209010782del , CM000664.1:g.209010782del	GRCh37
NC_000002.10:g.208719027del	NCBI36
NG_028158.1:g.5100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260988.5:c.10-38del MANE Select	ENSP00000260988.4:n.10-38del
ENST00000260988.4:c.10-38del	ENSP00000260988.4:n.10-38del
NM_005210.3:c.10-38del	NP_005201.2:n.10-38del
NR_038437.1:n.221+8879del
XM_017003402.1:c.10-38del	XP_016858891.1:n.10-38del
NM_005210.4:c.10-38del MANE Select	NP_005201.2:n.10-38del