Canonical Allele Identifier: CA2398639028
Gene: CRYBB2 HGNC NCBI

Linked Data

dbSNP Id: rs1920987430
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231844G>A , CM000684.2:g.25231844G>A GRCh38
NC_000022.10:g.25627811G>A , CM000684.1:g.25627811G>A GRCh37
NC_000022.9:g.23957811G>A NCBI36
NG_009827.1:g.17200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*72G>A MANE Select ENSP00000381273.2:n.*72G>A
ENST00000651629.1:c.*72G>A ENSP00000498905.1:n.*72G>A
ENST00000398215.2:c.*72G>A ENSP00000381273.2:n.*72G>A
NM_000496.2:c.*72G>A NP_000487.1:n.*72G>A
XM_006724141.2:c.*72G>A XP_006724204.1:n.*72G>A
XM_011529900.1:c.*72G>A XP_011528202.1:n.*72G>A
XM_011529901.1:c.*72G>A XP_011528203.1:n.*72G>A
XM_006724141.3:c.*72G>A XP_006724204.1:n.*72G>A
XM_011529900.2:c.*72G>A XP_011528202.1:n.*72G>A
NM_000496.3:c.*72G>A MANE Select NP_000487.1:n.*72G>A
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