Canonical Allele Identifier: CA2794919

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 1933519
• ClinVar RCV Id: RCV002627015
• dbSNP Id: rs748750637
• ExAC: 4:658735 T / G
• gnomAD v2: 4-658735-T-G
• gnomAD v4: 4-664946-T-G
• MyVariant Identifiers: chr4:g.658735T>G (hg19) ; chr4:g.664946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664946T>G , CM000666.2:g.664946T>G	GRCh38
NC_000004.11:g.658735T>G , CM000666.1:g.658735T>G	GRCh37
NC_000004.10:g.648735T>G	NCBI36
NG_009839.1:g.44373T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.2193+2T>G MANE Select	ENSP00000420295.1:n.2193+2T>G
ENST00000255622.10:c.2193+2T>G	ENSP00000255622.6:n.2193+2T>G
ENST00000429163.6:c.1356+2T>G	ENSP00000406334.2:n.1356+2T>G
ENST00000461490.1:c.35+2T>G
ENST00000471824.6:c.273+2T>G	ENSP00000417852.2:n.273+2T>G
ENST00000496514.5:c.2193+2T>G	ENSP00000420295.1:n.2193+2T>G
NM_000283.3:c.2193+2T>G	NP_000274.2:n.2193+2T>G
NM_001145291.1:c.2193+2T>G	NP_001138763.1:n.2193+2T>G
NM_001145292.1:c.1356+2T>G	NP_001138764.1:n.1356+2T>G
XM_011513473.1:c.2412+2T>G	XP_011511775.1:n.2412+2T>G
XM_011513474.1:c.2412+2T>G	XP_011511776.1:n.2412+2T>G
XM_011513475.1:c.2193+2T>G	XP_011511777.1:n.2193+2T>G
XM_011513476.1:c.2412+2T>G	XP_011511778.1:n.2412+2T>G
XM_011513477.1:c.1398+2T>G	XP_011511779.1:n.1398+2T>G
XM_011513478.1:c.1122+2T>G	XP_011511780.1:n.1122+2T>G
NM_001350154.1:c.1356+2T>G	NP_001337083.1:n.1356+2T>G
NM_001350155.1:c.1038+2T>G	NP_001337084.1:n.1038+2T>G
XM_011513473.3:c.2412+2T>G	XP_011511775.1:n.2412+2T>G
XM_011513474.3:c.2412+2T>G	XP_011511776.1:n.2412+2T>G
XM_011513475.2:c.2193+2T>G	XP_011511777.1:n.2193+2T>G
XM_011513476.3:c.2412+2T>G	XP_011511778.1:n.2412+2T>G
XM_011513478.2:c.1122+2T>G	XP_011511780.1:n.1122+2T>G
XM_017008284.1:c.1356+2T>G	XP_016863773.1:n.1356+2T>G
XM_017008285.1:c.1356+2T>G	XP_016863774.1:n.1356+2T>G
XM_017008286.1:c.1356+2T>G	XP_016863775.1:n.1356+2T>G
NM_001350154.2:c.1356+2T>G	NP_001337083.1:n.1356+2T>G
NM_001350155.2:c.1038+2T>G	NP_001337084.1:n.1038+2T>G
NM_000283.4:c.2193+2T>G MANE Select	NP_000274.3:n.2193+2T>G
NM_001145291.2:c.2193+2T>G	NP_001138763.2:n.2193+2T>G
NM_001145292.2:c.1356+2T>G	NP_001138764.2:n.1356+2T>G
NM_001350154.3:c.1356+2T>G	NP_001337083.1:n.1356+2T>G
NM_001350155.3:c.1038+2T>G	NP_001337084.1:n.1038+2T>G
NM_001379246.1:c.1356+2T>G	NP_001366175.1:n.1356+2T>G
NM_001379247.1:c.1356+2T>G	NP_001366176.1:n.1356+2T>G