Canonical Allele Identifier: CA638953163
Gene: CRYBB2 HGNC NCBI

Linked Data

dbSNP Id: rs1444337975
gnomAD v2: 22-25627784-C-A
gnomAD v4: 22-25231817-C-A
MyVariant Identifiers: chr22:g.25627784C>A (hg19) chr22:g.25231817C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231817C>A , CM000684.2:g.25231817C>A GRCh38
NC_000022.10:g.25627784C>A , CM000684.1:g.25627784C>A GRCh37
NC_000022.9:g.23957784C>A NCBI36
NG_009827.1:g.17173C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*45C>A MANE Select ENSP00000381273.2:n.*45C>A
ENST00000651629.1:c.*45C>A ENSP00000498905.1:n.*45C>A
ENST00000398215.2:c.*45C>A ENSP00000381273.2:n.*45C>A
NM_000496.2:c.*45C>A NP_000487.1:n.*45C>A
XM_006724141.2:c.*45C>A XP_006724204.1:n.*45C>A
XM_011529900.1:c.*45C>A XP_011528202.1:n.*45C>A
XM_011529901.1:c.*45C>A XP_011528203.1:n.*45C>A
XM_006724141.3:c.*45C>A XP_006724204.1:n.*45C>A
XM_011529900.2:c.*45C>A XP_011528202.1:n.*45C>A
NM_000496.3:c.*45C>A MANE Select NP_000487.1:n.*45C>A
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