Canonical Allele Identifier: CA10158033
Gene: CRYBB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2791791
ClinVar RCV Id: RCV003631479
dbSNP Id: rs137852880
ExAC: 22:25627555 A / C
gnomAD v2: 22-25627555-A-C
gnomAD v3: 22-25231588-A-C
gnomAD v4: 22-25231588-A-C
MyVariant Identifiers: chr22:g.25627555A>C (hg19) chr22:g.25231588A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231588A>C , CM000684.2:g.25231588A>C GRCh38
NC_000022.10:g.25627555A>C , CM000684.1:g.25627555A>C GRCh37
NC_000022.9:g.23957555A>C NCBI36
NG_009827.1:g.16944A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.450-16A>C MANE Select ENSP00000381273.2:n.450-16A>C
ENST00000651629.1:c.450-16A>C ENSP00000498905.1:n.450-16A>C
ENST00000398215.2:c.450-16A>C ENSP00000381273.2:n.450-16A>C
NM_000496.2:c.450-16A>C NP_000487.1:n.450-16A>C
XM_006724141.2:c.450-16A>C XP_006724204.1:n.450-16A>C
XM_011529900.1:c.450-16A>C XP_011528202.1:n.450-16A>C
XM_011529901.1:c.450-16A>C XP_011528203.1:n.450-16A>C
XM_006724141.3:c.450-16A>C XP_006724204.1:n.450-16A>C
XM_011529900.2:c.450-16A>C XP_011528202.1:n.450-16A>C
NM_000496.3:c.450-16A>C MANE Select NP_000487.1:n.450-16A>C
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