Canonical Allele Identifier: CA678950

Gene: EPHB2

Linked Data

• ClinVar Variation Id: 376739
• ClinVar RCV Id: RCV000434509
• dbSNP Id: rs138551214
• ExAC: 1:23235518 G / A
• gnomAD v2: 1-23235518-G-A
• gnomAD v3: 1-22909025-G-A
• gnomAD v4: 1-22909025-G-A
• MyVariant Identifiers: chr1:g.23235518G>A (hg19) ; chr1:g.22909025G>A (hg38)
• PubMed: PMID:18682749

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22909025G>A , CM000663.2:g.22909025G>A	GRCh38
NC_000001.10:g.23235518G>A , CM000663.1:g.23235518G>A	GRCh37
NC_000001.9:g.23108105G>A	NCBI36
NG_011804.2:g.203188G>A , LRG_780:g.203188G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374630.8:c.2356G>A MANE Select	ENSP00000363761.3:p.Gly786Arg
ENST00000374627.1:c.2341G>A	ENSP00000363758.1:p.Gly781Arg
ENST00000374630.7:c.2356G>A	ENSP00000363761.3:p.Gly786Arg
ENST00000374632.7:c.2359G>A	ENSP00000363763.3:p.Gly787Arg
ENST00000400191.7:c.2356G>A	ENSP00000383053.3:p.Gly786Arg
NM_001309192.1:c.2182G>A	NP_001296121.1:p.Gly728Arg
NM_001309193.1:c.2356G>A	NP_001296122.1:p.Gly786Arg
NM_004442.6:c.2359G>A	NP_004433.2:p.Gly787Arg
NM_004442.7:c.2359G>A , LRG_780t1:c.2359G>A	NP_004433.2:p.Gly787Arg
NM_017449.3:c.2356G>A	NP_059145.2:p.Gly786Arg
NM_017449.4:c.2356G>A , LRG_780t2:c.2356G>A	NP_059145.2:p.Gly786Arg
XM_006710441.2:c.2338G>A	XP_006710504.1:p.Gly780Arg
XM_006710442.2:c.2266G>A	XP_006710505.1:p.Gly756Arg
XM_011540976.1:c.1033G>A	XP_011539278.1:p.Gly345Arg
XM_006710441.4:c.2338G>A	XP_006710504.1:p.Gly780Arg
XM_006710442.4:c.2266G>A	XP_006710505.1:p.Gly756Arg
XM_024453895.1:c.1033G>A	XP_024309663.1:p.Gly345Arg
NM_001309192.2:c.2182G>A	NP_001296121.1:p.Gly728Arg
NM_001309193.2:c.2356G>A	NP_001296122.1:p.Gly786Arg
NM_017449.5:c.2356G>A MANE Select	NP_059145.2:p.Gly786Arg