Canonical Allele Identifier: CA2398638998
Gene: CRYBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231774_25231775delinsGC , CM000684.2:g.25231774_25231775delinsGC GRCh38
NC_000022.10:g.25627741_25627742delinsGC , CM000684.1:g.25627741_25627742delinsGC GRCh37
NC_000022.9:g.23957741_23957742delinsGC NCBI36
NG_009827.1:g.17130_17131delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*2_*3delinsGC MANE Select ENSP00000381273.2:n.*2_*3delinsGC
ENST00000651629.1:c.*2_*3delinsGC ENSP00000498905.1:n.*2_*3delinsGC
ENST00000398215.2:c.*2_*3delinsGC ENSP00000381273.2:n.*2_*3delinsGC
NM_000496.2:c.*2_*3delinsGC NP_000487.1:n.*2_*3delinsGC
XM_006724141.2:c.*2_*3delinsGC XP_006724204.1:n.*2_*3delinsGC
XM_011529900.1:c.*2_*3delinsGC XP_011528202.1:n.*2_*3delinsGC
XM_011529901.1:c.*2_*3delinsGC XP_011528203.1:n.*2_*3delinsGC
XM_006724141.3:c.*2_*3delinsGC XP_006724204.1:n.*2_*3delinsGC
XM_011529900.2:c.*2_*3delinsGC XP_011528202.1:n.*2_*3delinsGC
NM_000496.3:c.*2_*3delinsGC MANE Select NP_000487.1:n.*2_*3delinsGC