Canonical Allele Identifier: CA16043149

Gene: CRYBB2

Linked Data

• dbSNP Id: rs1555889312
• MyVariant Identifiers: chr22:g.25627681T>G (hg19) ; chr22:g.25231714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231714T>G , CM000684.2:g.25231714T>G	GRCh38
NC_000022.10:g.25627681T>G , CM000684.1:g.25627681T>G	GRCh37
NC_000022.9:g.23957681T>G	NCBI36
NG_009827.1:g.17070T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.560T>G MANE Select	ENSP00000381273.2:p.Val187Gly
ENST00000651629.1:c.560T>G	ENSP00000498905.1:p.Val187Gly
ENST00000398215.2:c.560T>G	ENSP00000381273.2:p.Val187Gly
NM_000496.2:c.560T>G	NP_000487.1:p.Val187Gly
XM_006724141.2:c.560T>G	XP_006724204.1:p.Val187Gly
XM_011529900.1:c.560T>G	XP_011528202.1:p.Val187Gly
XM_011529901.1:c.560T>G	XP_011528203.1:p.Val187Gly
XM_006724141.3:c.560T>G	XP_006724204.1:p.Val187Gly
XM_011529900.2:c.560T>G	XP_011528202.1:p.Val187Gly
NM_000496.3:c.560T>G MANE Select	NP_000487.1:p.Val187Gly