Canonical Allele Identifier: CA513894858

Gene: CRYBB2

Linked Data

• gnomAD v4: 22-25231736-G-A
• MyVariant Identifiers: chr22:g.25627703G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231736G>A , CM000684.2:g.25231736G>A	GRCh38
NC_000022.10:g.25627703G>A , CM000684.1:g.25627703G>A	GRCh37
NC_000022.9:g.23957703G>A	NCBI36
NG_009827.1:g.17092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.582G>A MANE Select	ENSP00000381273.2:p.Gln194=
ENST00000651629.1:c.582G>A	ENSP00000498905.1:p.Gln194=
ENST00000398215.2:c.582G>A	ENSP00000381273.2:p.Gln194=
NM_000496.2:c.582G>A	NP_000487.1:p.Gln194=
XM_006724141.2:c.582G>A	XP_006724204.1:p.Gln194=
XM_011529900.1:c.582G>A	XP_011528202.1:p.Gln194=
XM_011529901.1:c.582G>A	XP_011528203.1:p.Gln194=
XM_006724141.3:c.582G>A	XP_006724204.1:p.Gln194=
XM_011529900.2:c.582G>A	XP_011528202.1:p.Gln194=
NM_000496.3:c.582G>A MANE Select	NP_000487.1:p.Gln194=