Canonical Allele Identifier: CA410988423
Gene: CRYBB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231740C>G , CM000684.2:g.25231740C>G GRCh38
NC_000022.10:g.25627707C>G , CM000684.1:g.25627707C>G GRCh37
NC_000022.9:g.23957707C>G NCBI36
NG_009827.1:g.17096C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.586C>G MANE Select ENSP00000381273.2:p.His196Asp
ENST00000651629.1:c.586C>G ENSP00000498905.1:p.His196Asp
ENST00000398215.2:c.586C>G ENSP00000381273.2:p.His196Asp
NM_000496.2:c.586C>G NP_000487.1:p.His196Asp
XM_006724141.2:c.586C>G XP_006724204.1:p.His196Asp
XM_011529900.1:c.586C>G XP_011528202.1:p.His196Asp
XM_011529901.1:c.586C>G XP_011528203.1:p.His196Asp
XM_006724141.3:c.586C>G XP_006724204.1:p.His196Asp
XM_011529900.2:c.586C>G XP_011528202.1:p.His196Asp
NM_000496.3:c.586C>G MANE Select NP_000487.1:p.His196Asp