Canonical Allele Identifier: CA410988479

Gene: CRYBB2

Linked Data

• gnomAD v4: 22-25231765-C-T
• MyVariant Identifiers: chr22:g.25627732C>T (hg19) ; chr22:g.25231765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231765C>T , CM000684.2:g.25231765C>T	GRCh38
NC_000022.10:g.25627732C>T , CM000684.1:g.25627732C>T	GRCh37
NC_000022.9:g.23957732C>T	NCBI36
NG_009827.1:g.17121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.611C>T MANE Select	ENSP00000381273.2:p.Ser204Phe
ENST00000651629.1:c.611C>T	ENSP00000498905.1:p.Ser204Phe
ENST00000398215.2:c.611C>T	ENSP00000381273.2:p.Ser204Phe
NM_000496.2:c.611C>T	NP_000487.1:p.Ser204Phe
XM_006724141.2:c.611C>T	XP_006724204.1:p.Ser204Phe
XM_011529900.1:c.611C>T	XP_011528202.1:p.Ser204Phe
XM_011529901.1:c.611C>T	XP_011528203.1:p.Ser204Phe
XM_006724141.3:c.611C>T	XP_006724204.1:p.Ser204Phe
XM_011529900.2:c.611C>T	XP_011528202.1:p.Ser204Phe
NM_000496.3:c.611C>T MANE Select	NP_000487.1:p.Ser204Phe