Canonical Allele Identifier: CA513894844

Gene: CRYBB2

Linked Data

• gnomAD v4: 22-25231712-C-G
• MyVariant Identifiers: chr22:g.25627679C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231712C>G , CM000684.2:g.25231712C>G	GRCh38
NC_000022.10:g.25627679C>G , CM000684.1:g.25627679C>G	GRCh37
NC_000022.9:g.23957679C>G	NCBI36
NG_009827.1:g.17068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.558C>G MANE Select	ENSP00000381273.2:p.Ser186=
ENST00000651629.1:c.558C>G	ENSP00000498905.1:p.Ser186=
ENST00000398215.2:c.558C>G	ENSP00000381273.2:p.Ser186=
NM_000496.2:c.558C>G	NP_000487.1:p.Ser186=
XM_006724141.2:c.558C>G	XP_006724204.1:p.Ser186=
XM_011529900.1:c.558C>G	XP_011528202.1:p.Ser186=
XM_011529901.1:c.558C>G	XP_011528203.1:p.Ser186=
XM_006724141.3:c.558C>G	XP_006724204.1:p.Ser186=
XM_011529900.2:c.558C>G	XP_011528202.1:p.Ser186=
NM_000496.3:c.558C>G MANE Select	NP_000487.1:p.Ser186=