Canonical Allele Identifier: CA410988387
Gene: CRYBB2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.571C>A MANE Select ENSP00000381273.2:p.Arg191Ser
ENST00000651629.1:c.571C>A ENSP00000498905.1:p.Arg191Ser
ENST00000398215.2:c.571C>A ENSP00000381273.2:p.Arg191Ser
NM_000496.2:c.571C>A NP_000487.1:p.Arg191Ser
XM_006724141.2:c.571C>A XP_006724204.1:p.Arg191Ser
XM_011529900.1:c.571C>A XP_011528202.1:p.Arg191Ser
XM_011529901.1:c.571C>A XP_011528203.1:p.Arg191Ser
XM_006724141.3:c.571C>A XP_006724204.1:p.Arg191Ser
XM_011529900.2:c.571C>A XP_011528202.1:p.Arg191Ser
NM_000496.3:c.571C>A MANE Select NP_000487.1:p.Arg191Ser