Canonical Allele Identifier: CA410988363

Gene: CRYBB2

Linked Data

• ClinVar Variation Id: 3032720
• ClinVar RCV Id: RCV003894362
• MyVariant Identifiers: chr22:g.25627677T>A (hg19) ; chr22:g.25231710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231710T>A , CM000684.2:g.25231710T>A	GRCh38
NC_000022.10:g.25627677T>A , CM000684.1:g.25627677T>A	GRCh37
NC_000022.9:g.23957677T>A	NCBI36
NG_009827.1:g.17066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.556T>A MANE Select	ENSP00000381273.2:p.Ser186Thr
ENST00000651629.1:c.556T>A	ENSP00000498905.1:p.Ser186Thr
ENST00000398215.2:c.556T>A	ENSP00000381273.2:p.Ser186Thr
NM_000496.2:c.556T>A	NP_000487.1:p.Ser186Thr
XM_006724141.2:c.556T>A	XP_006724204.1:p.Ser186Thr
XM_011529900.1:c.556T>A	XP_011528202.1:p.Ser186Thr
XM_011529901.1:c.556T>A	XP_011528203.1:p.Ser186Thr
XM_006724141.3:c.556T>A	XP_006724204.1:p.Ser186Thr
XM_011529900.2:c.556T>A	XP_011528202.1:p.Ser186Thr
NM_000496.3:c.556T>A MANE Select	NP_000487.1:p.Ser186Thr