Canonical Allele Identifier: CA410988394
Gene: CRYBB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231729A>T , CM000684.2:g.25231729A>T GRCh38
NC_000022.10:g.25627696A>T , CM000684.1:g.25627696A>T GRCh37
NC_000022.9:g.23957696A>T NCBI36
NG_009827.1:g.17085A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.575A>T MANE Select ENSP00000381273.2:p.Asp192Val
ENST00000651629.1:c.575A>T ENSP00000498905.1:p.Asp192Val
ENST00000398215.2:c.575A>T ENSP00000381273.2:p.Asp192Val
NM_000496.2:c.575A>T NP_000487.1:p.Asp192Val
XM_006724141.2:c.575A>T XP_006724204.1:p.Asp192Val
XM_011529900.1:c.575A>T XP_011528202.1:p.Asp192Val
XM_011529901.1:c.575A>T XP_011528203.1:p.Asp192Val
XM_006724141.3:c.575A>T XP_006724204.1:p.Asp192Val
XM_011529900.2:c.575A>T XP_011528202.1:p.Asp192Val
NM_000496.3:c.575A>T MANE Select NP_000487.1:p.Asp192Val