Canonical Allele Identifier: CA513894849
Gene: CRYBB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.25627685C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231718C>T , CM000684.2:g.25231718C>T GRCh38
NC_000022.10:g.25627685C>T , CM000684.1:g.25627685C>T GRCh37
NC_000022.9:g.23957685C>T NCBI36
NG_009827.1:g.17074C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.564C>T MANE Select ENSP00000381273.2:p.Arg188=
ENST00000651629.1:c.564C>T ENSP00000498905.1:p.Arg188=
ENST00000398215.2:c.564C>T ENSP00000381273.2:p.Arg188=
NM_000496.2:c.564C>T NP_000487.1:p.Arg188=
XM_006724141.2:c.564C>T XP_006724204.1:p.Arg188=
XM_011529900.1:c.564C>T XP_011528202.1:p.Arg188=
XM_011529901.1:c.564C>T XP_011528203.1:p.Arg188=
XM_006724141.3:c.564C>T XP_006724204.1:p.Arg188=
XM_011529900.2:c.564C>T XP_011528202.1:p.Arg188=
NM_000496.3:c.564C>T MANE Select NP_000487.1:p.Arg188=