Canonical Allele Identifier: CA2398638982
Gene: CRYBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231743C= , CM000684.2:g.25231743C= GRCh38
NC_000022.10:g.25627710C= , CM000684.1:g.25627710C= GRCh37
NC_000022.9:g.23957710C= NCBI36
NG_009827.1:g.17099C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.589C= MANE Select ENSP00000381273.2:p.Gln197=
ENST00000651629.1:c.589C= ENSP00000498905.1:p.Gln197=
ENST00000398215.2:c.589C= ENSP00000381273.2:p.Gln197=
NM_000496.2:c.589C= NP_000487.1:p.Gln197=
XM_006724141.2:c.589C= XP_006724204.1:p.Gln197=
XM_011529900.1:c.589C= XP_011528202.1:p.Gln197=
XM_011529901.1:c.589C= XP_011528203.1:p.Gln197=
XM_006724141.3:c.589C= XP_006724204.1:p.Gln197=
XM_011529900.2:c.589C= XP_011528202.1:p.Gln197=
NM_000496.3:c.589C= MANE Select NP_000487.1:p.Gln197=