Canonical Allele Identifier: CA2078077

Gene: CRYGB

Linked Data

• ClinVar Variation Id: 474172
• ClinVar RCV Id: RCV000559212 ; RCV003925690
• dbSNP Id: rs200750137
• ExAC: 2:209007578 T / C
• gnomAD v2: 2-209007578-T-C
• gnomAD v3: 2-208142854-T-C
• gnomAD v4: 2-208142854-T-C
• MyVariant Identifiers: chr2:g.209007578T>C (hg19) ; chr2:g.208142854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208142854T>C , CM000664.2:g.208142854T>C	GRCh38
NC_000002.11:g.209007578T>C , CM000664.1:g.209007578T>C	GRCh37
NC_000002.10:g.208715823T>C	NCBI36
NG_028158.1:g.8300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260988.5:c.312A>G MANE Select	ENSP00000260988.4:p.Ser104=
ENST00000260988.4:c.312A>G	ENSP00000260988.4:p.Ser104=
NM_005210.3:c.312A>G	NP_005201.2:p.Ser104=
NR_038437.1:n.221+5675T>C
XM_017003402.1:c.318A>G	XP_016858891.1:p.Ser106=
NM_005210.4:c.312A>G MANE Select	NP_005201.2:p.Ser104=