Canonical Allele Identifier: CA10158060

Gene: CRYBB2

Linked Data

• ClinVar Variation Id: 1039314
• ClinVar RCV Id: RCV001342766 ; RCV001799759 ; RCV002246319 ; RCV003416239
• dbSNP Id: rs143080187
• ExAC: 22:25627680 G / A
• gnomAD v2: 22-25627680-G-A
• gnomAD v3: 22-25231713-G-A
• gnomAD v4: 22-25231713-G-A
• MyVariant Identifiers: chr22:g.25627680G>A (hg19) ; chr22:g.25231713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231713G>A , CM000684.2:g.25231713G>A	GRCh38
NC_000022.10:g.25627680G>A , CM000684.1:g.25627680G>A	GRCh37
NC_000022.9:g.23957680G>A	NCBI36
NG_009827.1:g.17069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.559G>A MANE Select	ENSP00000381273.2:p.Val187Met
ENST00000651629.1:c.559G>A	ENSP00000498905.1:p.Val187Met
ENST00000398215.2:c.559G>A	ENSP00000381273.2:p.Val187Met
NM_000496.2:c.559G>A	NP_000487.1:p.Val187Met
XM_006724141.2:c.559G>A	XP_006724204.1:p.Val187Met
XM_011529900.1:c.559G>A	XP_011528202.1:p.Val187Met
XM_011529901.1:c.559G>A	XP_011528203.1:p.Val187Met
XM_006724141.3:c.559G>A	XP_006724204.1:p.Val187Met
XM_011529900.2:c.559G>A	XP_011528202.1:p.Val187Met
NM_000496.3:c.559G>A MANE Select	NP_000487.1:p.Val187Met