Canonical Allele Identifier: CA2655844776
Gene: CRYBB2 HGNC NCBI

Linked Data

gnomAD v4: 22-25231834-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231834C>A , CM000684.2:g.25231834C>A GRCh38
NC_000022.10:g.25627801C>A , CM000684.1:g.25627801C>A GRCh37
NC_000022.9:g.23957801C>A NCBI36
NG_009827.1:g.17190C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*62C>A MANE Select ENSP00000381273.2:n.*62C>A
ENST00000651629.1:c.*62C>A ENSP00000498905.1:n.*62C>A
ENST00000398215.2:c.*62C>A ENSP00000381273.2:n.*62C>A
NM_000496.2:c.*62C>A NP_000487.1:n.*62C>A
XM_006724141.2:c.*62C>A XP_006724204.1:n.*62C>A
XM_011529900.1:c.*62C>A XP_011528202.1:n.*62C>A
XM_011529901.1:c.*62C>A XP_011528203.1:n.*62C>A
XM_006724141.3:c.*62C>A XP_006724204.1:n.*62C>A
XM_011529900.2:c.*62C>A XP_011528202.1:n.*62C>A
NM_000496.3:c.*62C>A MANE Select NP_000487.1:n.*62C>A
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