Canonical Allele Identifier: CA10158071

Gene: CRYBB2

Linked Data

• dbSNP Id: rs761791717
• ExAC: 22:25627715 TG / T
• gnomAD v2: 22-25627715-TG-T
• gnomAD v3: 22-25231748-TG-T
• gnomAD v4: 22-25231748-TG-T
• MyVariant Identifiers: chr22:g.25627716del (hg19) ; chr22:g.25231749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231750del , CM000684.2:g.25231750del	GRCh38
NC_000022.10:g.25627717del , CM000684.1:g.25627717del	GRCh37
NC_000022.9:g.23957717del	NCBI36
NG_009827.1:g.17106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.596del MANE Select	ENSP00000381273.2:p.Gly199ValfsTer?
ENST00000651629.1:c.596del	ENSP00000498905.1:p.Gly199ValfsTer?
ENST00000398215.2:c.596del	ENSP00000381273.2:p.Gly199ValfsTer?
NM_000496.2:c.596del	NP_000487.1:p.Gly199ValfsTer?
XM_006724141.2:c.596del	XP_006724204.1:p.Gly199ValfsTer?
XM_011529900.1:c.596del	XP_011528202.1:p.Gly199ValfsTer?
XM_011529901.1:c.596del	XP_011528203.1:p.Gly199ValfsTer?
XM_006724141.3:c.596del	XP_006724204.1:p.Gly199ValfsTer?
XM_011529900.2:c.596del	XP_011528202.1:p.Gly199ValfsTer?
NM_000496.3:c.596del MANE Select	NP_000487.1:p.Gly199ValfsTer?