Canonical Allele Identifier: CA410988455
Gene: CRYBB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231755T>G , CM000684.2:g.25231755T>G GRCh38
NC_000022.10:g.25627722T>G , CM000684.1:g.25627722T>G GRCh37
NC_000022.9:g.23957722T>G NCBI36
NG_009827.1:g.17111T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.601T>G MANE Select ENSP00000381273.2:p.Phe201Val
ENST00000651629.1:c.601T>G ENSP00000498905.1:p.Phe201Val
ENST00000398215.2:c.601T>G ENSP00000381273.2:p.Phe201Val
NM_000496.2:c.601T>G NP_000487.1:p.Phe201Val
XM_006724141.2:c.601T>G XP_006724204.1:p.Phe201Val
XM_011529900.1:c.601T>G XP_011528202.1:p.Phe201Val
XM_011529901.1:c.601T>G XP_011528203.1:p.Phe201Val
XM_006724141.3:c.601T>G XP_006724204.1:p.Phe201Val
XM_011529900.2:c.601T>G XP_011528202.1:p.Phe201Val
NM_000496.3:c.601T>G MANE Select NP_000487.1:p.Phe201Val