Canonical Allele Identifier: CA2398638949
Gene: CRYBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231684T= , CM000684.2:g.25231684T= GRCh38
NC_000022.10:g.25627651T= , CM000684.1:g.25627651T= GRCh37
NC_000022.9:g.23957651T= NCBI36
NG_009827.1:g.17040T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.530T= MANE Select ENSP00000381273.2:p.Phe177=
ENST00000651629.1:c.530T= ENSP00000498905.1:p.Phe177=
ENST00000398215.2:c.530T= ENSP00000381273.2:p.Phe177=
NM_000496.2:c.530T= NP_000487.1:p.Phe177=
XM_006724141.2:c.530T= XP_006724204.1:p.Phe177=
XM_011529900.1:c.530T= XP_011528202.1:p.Phe177=
XM_011529901.1:c.530T= XP_011528203.1:p.Phe177=
XM_006724141.3:c.530T= XP_006724204.1:p.Phe177=
XM_011529900.2:c.530T= XP_011528202.1:p.Phe177=
NM_000496.3:c.530T= MANE Select NP_000487.1:p.Phe177=