Canonical Allele Identifier: CA2077738

Gene: CRYGD

Linked Data

• dbSNP Id: rs749386412
• ExAC: 2:208989018 GGT / G
• gnomAD v2: 2-208989018-GGT-G
• gnomAD v3: 2-208124294-GGT-G
• gnomAD v4: 2-208124294-GGT-G
• MyVariant Identifiers: chr2:g.208989019_208989020del (hg19) ; chr2:g.208124295_208124296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208124296_208124297del , CM000664.2:g.208124296_208124297del	GRCh38
NC_000002.11:g.208989020_208989021del , CM000664.1:g.208989020_208989021del	GRCh37
NC_000002.10:g.208697265_208697266del	NCBI36
NG_008039.1:g.5294_5295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264376.5:c.68_69del MANE Select	ENSP00000264376.4:p.His23ProfsTer24
ENST00000264376.4:c.68_69del	ENSP00000264376.4:p.His23ProfsTer24
NM_006891.3:c.68_69del	NP_008822.2:p.His23ProfsTer24
NR_038437.1:n.97+5071_97+5072del
NM_006891.4:c.68_69del MANE Select	NP_008822.2:p.His23ProfsTer24