Canonical Allele Identifier: CA10158063
Gene: CRYBB2 HGNC NCBI

Linked Data

dbSNP Id: rs148209404

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231725C>T , CM000684.2:g.25231725C>T GRCh38
NC_000022.10:g.25627692C>T , CM000684.1:g.25627692C>T GRCh37
NC_000022.9:g.23957692C>T NCBI36
NG_009827.1:g.17081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.571C>T MANE Select ENSP00000381273.2:p.Arg191Cys
ENST00000651629.1:c.571C>T ENSP00000498905.1:p.Arg191Cys
ENST00000398215.2:c.571C>T ENSP00000381273.2:p.Arg191Cys
NM_000496.2:c.571C>T NP_000487.1:p.Arg191Cys
XM_006724141.2:c.571C>T XP_006724204.1:p.Arg191Cys
XM_011529900.1:c.571C>T XP_011528202.1:p.Arg191Cys
XM_011529901.1:c.571C>T XP_011528203.1:p.Arg191Cys
XM_006724141.3:c.571C>T XP_006724204.1:p.Arg191Cys
XM_011529900.2:c.571C>T XP_011528202.1:p.Arg191Cys
NM_000496.3:c.571C>T MANE Select NP_000487.1:p.Arg191Cys