Canonical Allele Identifier: CA214967
Gene: CRYBB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16949
ClinVar RCV Id: RCV000018458 RCV000490780 RCV000760465 RCV003398538
dbSNP Id: rs74315489
gnomAD v3: 22-25231617-C-T
gnomAD v4: 22-25231617-C-T
MyVariant Identifiers: chr22:g.25627584C>T (hg19) chr22:g.25231617C>T (hg38)
PubMed: PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 PMID:17234267
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231617C>T , CM000684.2:g.25231617C>T GRCh38
NC_000022.10:g.25627584C>T , CM000684.1:g.25627584C>T GRCh37
NC_000022.9:g.23957584C>T NCBI36
NG_009827.1:g.16973C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000398215.3:c.463C>T MANE Select ENSP00000381273.2:p.Gln155Ter
ENST00000651629.1:c.463C>T ENSP00000498905.1:p.Gln155Ter
ENST00000398215.2:c.463C>T ENSP00000381273.2:p.Gln155Ter
NM_000496.2:c.463C>T NP_000487.1:p.Gln155Ter
XM_006724141.2:c.463C>T XP_006724204.1:p.Gln155Ter
XM_011529900.1:c.463C>T XP_011528202.1:p.Gln155Ter
XM_011529901.1:c.463C>T XP_011528203.1:p.Gln155Ter
XM_006724141.3:c.463C>T XP_006724204.1:p.Gln155Ter
XM_011529900.2:c.463C>T XP_011528202.1:p.Gln155Ter
NM_000496.3:c.463C>T MANE Select NP_000487.1:p.Gln155Ter
Search 100 bp 5'
Search 100 bp 3'