Canonical Allele Identifier: CA410988374

Gene: CRYBB2

Linked Data

• ClinVar Variation Id: 1210294
• ClinVar RCV Id: RCV001580383 ; RCV001815589
• dbSNP Id: rs2146095454
• COSMIC: COSM5564830
• MyVariant Identifiers: chr22:g.25627683C>T (hg19) ; chr22:g.25231716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231716C>T , CM000684.2:g.25231716C>T	GRCh38
NC_000022.10:g.25627683C>T , CM000684.1:g.25627683C>T	GRCh37
NC_000022.9:g.23957683C>T	NCBI36
NG_009827.1:g.17072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.562C>T MANE Select	ENSP00000381273.2:p.Arg188Cys
ENST00000651629.1:c.562C>T	ENSP00000498905.1:p.Arg188Cys
ENST00000398215.2:c.562C>T	ENSP00000381273.2:p.Arg188Cys
NM_000496.2:c.562C>T	NP_000487.1:p.Arg188Cys
XM_006724141.2:c.562C>T	XP_006724204.1:p.Arg188Cys
XM_011529900.1:c.562C>T	XP_011528202.1:p.Arg188Cys
XM_011529901.1:c.562C>T	XP_011528203.1:p.Arg188Cys
XM_006724141.3:c.562C>T	XP_006724204.1:p.Arg188Cys
XM_011529900.2:c.562C>T	XP_011528202.1:p.Arg188Cys
NM_000496.3:c.562C>T MANE Select	NP_000487.1:p.Arg188Cys