Canonical Allele Identifier: CA322757445

Gene: CRYBB2

Linked Data

• dbSNP Id: rs1038512934
• gnomAD v3: 22-25231827-T-C
• gnomAD v4: 22-25231827-T-C
• MyVariant Identifiers: chr22:g.25627794T>C (hg19) ; chr22:g.25231827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231827T>C , CM000684.2:g.25231827T>C	GRCh38
NC_000022.10:g.25627794T>C , CM000684.1:g.25627794T>C	GRCh37
NC_000022.9:g.23957794T>C	NCBI36
NG_009827.1:g.17183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.*55T>C MANE Select	ENSP00000381273.2:n.*55T>C
ENST00000651629.1:c.*55T>C	ENSP00000498905.1:n.*55T>C
ENST00000398215.2:c.*55T>C	ENSP00000381273.2:n.*55T>C
NM_000496.2:c.*55T>C	NP_000487.1:n.*55T>C
XM_006724141.2:c.*55T>C	XP_006724204.1:n.*55T>C
XM_011529900.1:c.*55T>C	XP_011528202.1:n.*55T>C
XM_011529901.1:c.*55T>C	XP_011528203.1:n.*55T>C
XM_006724141.3:c.*55T>C	XP_006724204.1:n.*55T>C
XM_011529900.2:c.*55T>C	XP_011528202.1:n.*55T>C
NM_000496.3:c.*55T>C MANE Select	NP_000487.1:n.*55T>C