Canonical Allele Identifier: CA513894862
Gene: CRYBB2 HGNC NCBI

Linked Data

dbSNP Id: rs1569022763
gnomAD v2: 22-25627715-T-C
gnomAD v3: 22-25231748-T-C
gnomAD v4: 22-25231748-T-C
MyVariant Identifiers: chr22:g.25627715T>C (hg19) chr22:g.25627715_25627716delinsCG (hg19) chr22:g.25231748_25231749delinsCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231748T>C , CM000684.2:g.25231748T>C GRCh38
NC_000022.10:g.25627715T>C , CM000684.1:g.25627715T>C GRCh37
NC_000022.9:g.23957715T>C NCBI36
NG_009827.1:g.17104T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.594T>C MANE Select ENSP00000381273.2:p.Arg198=
ENST00000651629.1:c.594T>C ENSP00000498905.1:p.Arg198=
ENST00000398215.2:c.594T>C ENSP00000381273.2:p.Arg198=
NM_000496.2:c.594T>C NP_000487.1:p.Arg198=
XM_006724141.2:c.594T>C XP_006724204.1:p.Arg198=
XM_011529900.1:c.594T>C XP_011528202.1:p.Arg198=
XM_011529901.1:c.594T>C XP_011528203.1:p.Arg198=
XM_006724141.3:c.594T>C XP_006724204.1:p.Arg198=
XM_011529900.2:c.594T>C XP_011528202.1:p.Arg198=
NM_000496.3:c.594T>C MANE Select NP_000487.1:p.Arg198=
Search 100 bp 5'
Search 100 bp 3'