Canonical Allele Identifier: CA2818573158

Gene: CRYBB2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231744_25231745insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG , CM000684.2:g.25231744_25231745insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	GRCh38
NC_000022.10:g.25627711_25627712insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG , CM000684.1:g.25627711_25627712insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	GRCh37
NC_000022.9:g.23957711_23957712insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	NCBI36
NG_009827.1:g.17100_17101insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG MANE Select	ENSP00000381273.2:p.Gln197HisfsTer?
ENST00000651629.1:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	ENSP00000498905.1:p.Gln197HisfsTer?
ENST00000398215.2:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	ENSP00000381273.2:p.Gln197HisfsTer?
NM_000496.2:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	NP_000487.1:p.Gln197HisfsTer?
XM_006724141.2:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	XP_006724204.1:p.Gln197HisfsTer?
XM_011529900.1:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	XP_011528202.1:p.Gln197HisfsTer?
XM_011529901.1:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	XP_011528203.1:p.Gln197HisfsTer?
XM_006724141.3:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	XP_006724204.1:p.Gln197HisfsTer?
XM_011529900.2:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG	XP_011528202.1:p.Gln197HisfsTer?
NM_000496.3:c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG MANE Select	NP_000487.1:p.Gln197HisfsTer?