Canonical Allele Identifier: CA10158084
Gene: CRYBB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1202664
ClinVar RCV Id: RCV001568440
dbSNP Id: rs199725398
ExAC: 22:25627788 G / A
gnomAD v2: 22-25627788-G-A
gnomAD v3: 22-25231821-G-A
gnomAD v4: 22-25231821-G-A
MyVariant Identifiers: chr22:g.25627788G>A (hg19) chr22:g.25231821G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231821G>A , CM000684.2:g.25231821G>A GRCh38
NC_000022.10:g.25627788G>A , CM000684.1:g.25627788G>A GRCh37
NC_000022.9:g.23957788G>A NCBI36
NG_009827.1:g.17177G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*49G>A MANE Select ENSP00000381273.2:n.*49G>A
ENST00000651629.1:c.*49G>A ENSP00000498905.1:n.*49G>A
ENST00000398215.2:c.*49G>A ENSP00000381273.2:n.*49G>A
NM_000496.2:c.*49G>A NP_000487.1:n.*49G>A
XM_006724141.2:c.*49G>A XP_006724204.1:n.*49G>A
XM_011529900.1:c.*49G>A XP_011528202.1:n.*49G>A
XM_011529901.1:c.*49G>A XP_011528203.1:n.*49G>A
XM_006724141.3:c.*49G>A XP_006724204.1:n.*49G>A
XM_011529900.2:c.*49G>A XP_011528202.1:n.*49G>A
NM_000496.3:c.*49G>A MANE Select NP_000487.1:n.*49G>A
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