Canonical Allele Identifier: CA638953161

Gene: CRYBB2

Linked Data

• dbSNP Id: rs1354241927
• gnomAD v2: 22-25627701-C-CA
• gnomAD v4: 22-25231734-C-CA
• MyVariant Identifiers: chr22:g.25627701_25627702insA (hg19) ; chr22:g.25231734_25231735insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231735dup , CM000684.2:g.25231735dup	GRCh38
NC_000022.10:g.25627702dup , CM000684.1:g.25627702dup	GRCh37
NC_000022.9:g.23957702dup	NCBI36
NG_009827.1:g.17091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.581dup MANE Select	ENSP00000381273.2:p.Trp195ValfsTer?
ENST00000651629.1:c.581dup	ENSP00000498905.1:p.Trp195ValfsTer?
ENST00000398215.2:c.581dup	ENSP00000381273.2:p.Trp195ValfsTer?
NM_000496.2:c.581dup	NP_000487.1:p.Trp195ValfsTer?
XM_006724141.2:c.581dup	XP_006724204.1:p.Trp195ValfsTer?
XM_011529900.1:c.581dup	XP_011528202.1:p.Trp195ValfsTer?
XM_011529901.1:c.581dup	XP_011528203.1:p.Trp195ValfsTer?
XM_006724141.3:c.581dup	XP_006724204.1:p.Trp195ValfsTer?
XM_011529900.2:c.581dup	XP_011528202.1:p.Trp195ValfsTer?
NM_000496.3:c.581dup MANE Select	NP_000487.1:p.Trp195ValfsTer?