Canonical Allele Identifier: CA10158082
Gene: CRYBB2 HGNC NCBI

Linked Data

dbSNP Id: rs756413676
ExAC: 22:25627777 C / T
gnomAD v2: 22-25627777-C-T
gnomAD v3: 22-25231810-C-T
gnomAD v4: 22-25231810-C-T
MyVariant Identifiers: chr22:g.25627777C>T (hg19) chr22:g.25231810C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231810C>T , CM000684.2:g.25231810C>T GRCh38
NC_000022.10:g.25627777C>T , CM000684.1:g.25627777C>T GRCh37
NC_000022.9:g.23957777C>T NCBI36
NG_009827.1:g.17166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.*38C>T MANE Select ENSP00000381273.2:n.*38C>T
ENST00000651629.1:c.*38C>T ENSP00000498905.1:n.*38C>T
ENST00000398215.2:c.*38C>T ENSP00000381273.2:n.*38C>T
NM_000496.2:c.*38C>T NP_000487.1:n.*38C>T
XM_006724141.2:c.*38C>T XP_006724204.1:n.*38C>T
XM_011529900.1:c.*38C>T XP_011528202.1:n.*38C>T
XM_011529901.1:c.*38C>T XP_011528203.1:n.*38C>T
XM_006724141.3:c.*38C>T XP_006724204.1:n.*38C>T
XM_011529900.2:c.*38C>T XP_011528202.1:n.*38C>T
NM_000496.3:c.*38C>T MANE Select NP_000487.1:n.*38C>T
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