Canonical Allele Identifier: CA513894865
Gene: CRYBB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.25627718T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231751T>C , CM000684.2:g.25231751T>C GRCh38
NC_000022.10:g.25627718T>C , CM000684.1:g.25627718T>C GRCh37
NC_000022.9:g.23957718T>C NCBI36
NG_009827.1:g.17107T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.597T>C MANE Select ENSP00000381273.2:p.Gly199=
ENST00000651629.1:c.597T>C ENSP00000498905.1:p.Gly199=
ENST00000398215.2:c.597T>C ENSP00000381273.2:p.Gly199=
NM_000496.2:c.597T>C NP_000487.1:p.Gly199=
XM_006724141.2:c.597T>C XP_006724204.1:p.Gly199=
XM_011529900.1:c.597T>C XP_011528202.1:p.Gly199=
XM_011529901.1:c.597T>C XP_011528203.1:p.Gly199=
XM_006724141.3:c.597T>C XP_006724204.1:p.Gly199=
XM_011529900.2:c.597T>C XP_011528202.1:p.Gly199=
NM_000496.3:c.597T>C MANE Select NP_000487.1:p.Gly199=