Canonical Allele Identifier: CA410988299

Gene: CRYBB2

Linked Data

• dbSNP Id: rs772888950
• gnomAD v2: 22-25627646-C-A
• MyVariant Identifiers: chr22:g.25627646C>A (hg19) ; chr22:g.25231679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231679C>A , CM000684.2:g.25231679C>A	GRCh38
NC_000022.10:g.25627646C>A , CM000684.1:g.25627646C>A	GRCh37
NC_000022.9:g.23957646C>A	NCBI36
NG_009827.1:g.17035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.525C>A MANE Select	ENSP00000381273.2:p.Ser175Arg
ENST00000651629.1:c.525C>A	ENSP00000498905.1:p.Ser175Arg
ENST00000398215.2:c.525C>A	ENSP00000381273.2:p.Ser175Arg
NM_000496.2:c.525C>A	NP_000487.1:p.Ser175Arg
XM_006724141.2:c.525C>A	XP_006724204.1:p.Ser175Arg
XM_011529900.1:c.525C>A	XP_011528202.1:p.Ser175Arg
XM_011529901.1:c.525C>A	XP_011528203.1:p.Ser175Arg
XM_006724141.3:c.525C>A	XP_006724204.1:p.Ser175Arg
XM_011529900.2:c.525C>A	XP_011528202.1:p.Ser175Arg
NM_000496.3:c.525C>A MANE Select	NP_000487.1:p.Ser175Arg