Canonical Allele Identifier: CA16609314

Gene: CRYBB2

Linked Data

• ClinVar Variation Id: 252952
• ClinVar RCV Id: RCV000490791
• dbSNP Id: rs886041410
• MyVariant Identifiers: chr22:g.25627684G>T (hg19) ; chr22:g.25231717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231717G>T , CM000684.2:g.25231717G>T	GRCh38
NC_000022.10:g.25627684G>T , CM000684.1:g.25627684G>T	GRCh37
NC_000022.9:g.23957684G>T	NCBI36
NG_009827.1:g.17073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.563G>T MANE Select	ENSP00000381273.2:p.Arg188Leu
ENST00000651629.1:c.563G>T	ENSP00000498905.1:p.Arg188Leu
ENST00000398215.2:c.563G>T	ENSP00000381273.2:p.Arg188Leu
NM_000496.2:c.563G>T	NP_000487.1:p.Arg188Leu
XM_006724141.2:c.563G>T	XP_006724204.1:p.Arg188Leu
XM_011529900.1:c.563G>T	XP_011528202.1:p.Arg188Leu
XM_011529901.1:c.563G>T	XP_011528203.1:p.Arg188Leu
XM_006724141.3:c.563G>T	XP_006724204.1:p.Arg188Leu
XM_011529900.2:c.563G>T	XP_011528202.1:p.Arg188Leu
NM_000496.3:c.563G>T MANE Select	NP_000487.1:p.Arg188Leu