Canonical Allele Identifier: CA513894819
Gene: CRYBB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.25627637G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231670G>A , CM000684.2:g.25231670G>A GRCh38
NC_000022.10:g.25627637G>A , CM000684.1:g.25627637G>A GRCh37
NC_000022.9:g.23957637G>A NCBI36
NG_009827.1:g.17026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.516G>A MANE Select ENSP00000381273.2:p.Lys172=
ENST00000651629.1:c.516G>A ENSP00000498905.1:p.Lys172=
ENST00000398215.2:c.516G>A ENSP00000381273.2:p.Lys172=
NM_000496.2:c.516G>A NP_000487.1:p.Lys172=
XM_006724141.2:c.516G>A XP_006724204.1:p.Lys172=
XM_011529900.1:c.516G>A XP_011528202.1:p.Lys172=
XM_011529901.1:c.516G>A XP_011528203.1:p.Lys172=
XM_006724141.3:c.516G>A XP_006724204.1:p.Lys172=
XM_011529900.2:c.516G>A XP_011528202.1:p.Lys172=
NM_000496.3:c.516G>A MANE Select NP_000487.1:p.Lys172=