Canonical Allele Identifier: CA2577670073
Gene: CRYBB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231818C>A , CM000684.2:g.25231818C>A GRCh38
NC_000022.10:g.25627785C>A , CM000684.1:g.25627785C>A GRCh37
NC_000022.9:g.23957785C>A NCBI36
NG_009827.1:g.17174C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*46C>A MANE Select ENSP00000381273.2:n.*46C>A
ENST00000651629.1:c.*46C>A ENSP00000498905.1:n.*46C>A
ENST00000398215.2:c.*46C>A ENSP00000381273.2:n.*46C>A
NM_000496.2:c.*46C>A NP_000487.1:n.*46C>A
XM_006724141.2:c.*46C>A XP_006724204.1:n.*46C>A
XM_011529900.1:c.*46C>A XP_011528202.1:n.*46C>A
XM_011529901.1:c.*46C>A XP_011528203.1:n.*46C>A
XM_006724141.3:c.*46C>A XP_006724204.1:n.*46C>A
XM_011529900.2:c.*46C>A XP_011528202.1:n.*46C>A
NM_000496.3:c.*46C>A MANE Select NP_000487.1:n.*46C>A
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