Canonical Allele Identifier: CA410988447

Gene: CRYBB2

Linked Data

• dbSNP Id: rs1157126517
• gnomAD v3: 22-25231750-G-C
• gnomAD v4: 22-25231750-G-C
• MyVariant Identifiers: chr22:g.25627717G>C (hg19) ; chr22:g.25231750G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.596G>C MANE Select	ENSP00000381273.2:p.Gly199Ala
ENST00000651629.1:c.596G>C	ENSP00000498905.1:p.Gly199Ala
ENST00000398215.2:c.596G>C	ENSP00000381273.2:p.Gly199Ala
NM_000496.2:c.596G>C	NP_000487.1:p.Gly199Ala
XM_006724141.2:c.596G>C	XP_006724204.1:p.Gly199Ala
XM_011529900.1:c.596G>C	XP_011528202.1:p.Gly199Ala
XM_011529901.1:c.596G>C	XP_011528203.1:p.Gly199Ala
XM_006724141.3:c.596G>C	XP_006724204.1:p.Gly199Ala
XM_011529900.2:c.596G>C	XP_011528202.1:p.Gly199Ala
NM_000496.3:c.596G>C MANE Select	NP_000487.1:p.Gly199Ala