Canonical Allele Identifier: CA2499226042

Gene: CRYBB2

Linked Data

• ClinVar Variation Id: 1297040
• ClinVar RCV Id: RCV001724776
• dbSNP Id: rs2146095462

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231719_25231726delinsTGCATCCA , CM000684.2:g.25231719_25231726delinsTGCATCCA	GRCh38
NC_000022.10:g.25627686_25627693delinsTGCATCCA , CM000684.1:g.25627686_25627693delinsTGCATCCA	GRCh37
NC_000022.9:g.23957686_23957693delinsTGCATCCA	NCBI36
NG_009827.1:g.17075_17082delinsTGCATCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.565_572delinsTGCATCCA MANE Select	ENSP00000381273.2:p.Arg189_Arg191delinsCysIleHis
ENST00000651629.1:c.565_572delinsTGCATCCA	ENSP00000498905.1:p.Arg189_Arg191delinsCysIleHis
ENST00000398215.2:c.565_572delinsTGCATCCA	ENSP00000381273.2:p.Arg189_Arg191delinsCysIleHis
NM_000496.2:c.565_572delinsTGCATCCA	NP_000487.1:p.Arg189_Arg191delinsCysIleHis
XM_006724141.2:c.565_572delinsTGCATCCA	XP_006724204.1:p.Arg189_Arg191delinsCysIleHis
XM_011529900.1:c.565_572delinsTGCATCCA	XP_011528202.1:p.Arg189_Arg191delinsCysIleHis
XM_011529901.1:c.565_572delinsTGCATCCA	XP_011528203.1:p.Arg189_Arg191delinsCysIleHis
XM_006724141.3:c.565_572delinsTGCATCCA	XP_006724204.1:p.Arg189_Arg191delinsCysIleHis
XM_011529900.2:c.565_572delinsTGCATCCA	XP_011528202.1:p.Arg189_Arg191delinsCysIleHis
NM_000496.3:c.565_572delinsTGCATCCA MANE Select	NP_000487.1:p.Arg189_Arg191delinsCysIleHis