Canonical Allele Identifier: CA057831

Gene: CRYBB2

Linked Data

• PubMed: PMID:26694549

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.[25229472C>A;25229484G>A] , CM000684.2:g.[25229472C>A;25229484G>A]	GRCh38
NC_000022.10:g.[25625439C>A;25625451G>A] , CM000684.1:g.[25625439C>A;25625451G>A]	GRCh37
NC_000022.9:g.[23955439C>A;23955451G>A]	NCBI36
NG_009827.1:g.[14828C>A;14840G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.[343C>A;355G>A] MANE Select	ENSP00000381273.2:p.[Pro115Thr;Gly119Arg]
ENST00000651629.1:c.[343C>A;355G>A]	ENSP00000498905.1:p.[Pro115Thr;Gly119Arg]
ENST00000398215.2:c.[343C>A;355G>A]	ENSP00000381273.2:p.[Pro115Thr;Gly119Arg]
NM_000496.2:c.[343C>A;355G>A]	NP_000487.1:p.[Pro115Thr;Gly119Arg]
XM_006724141.2:c.[343C>A;355G>A]	XP_006724204.1:p.[Pro115Thr;Gly119Arg]
XM_011529900.1:c.[343C>A;355G>A]	XP_011528202.1:p.[Pro115Thr;Gly119Arg]
XM_011529901.1:c.[343C>A;355G>A]	XP_011528203.1:p.[Pro115Thr;Gly119Arg]
XM_006724141.3:c.[343C>A;355G>A]	XP_006724204.1:p.[Pro115Thr;Gly119Arg]
XM_011529900.2:c.[343C>A;355G>A]	XP_011528202.1:p.[Pro115Thr;Gly119Arg]
NM_000496.3:c.[343C>A;355G>A] MANE Select	NP_000487.1:p.[Pro115Thr;Gly119Arg]