Canonical Allele Identifier: CA416385566
Gene: EPHA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1130034
ClinVar RCV Id: RCV001463378
dbSNP Id: rs2124200644
gnomAD v4: 1-16132154-G-A
MyVariant Identifiers: chr1:g.16458649G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16132154G>A , CM000663.2:g.16132154G>A GRCh38
NC_000001.10:g.16458649G>A , CM000663.1:g.16458649G>A GRCh37
NC_000001.9:g.16331236G>A NCBI36
NG_021396.1:g.28934C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358432.8:c.2235C>T MANE Select ENSP00000351209.5:p.Ile745=
ENST00000358432.7:c.2235C>T ENSP00000351209.5:p.Ile745=
NM_004431.3:c.2235C>T NP_004422.2:p.Ile745=
NM_001329090.1:c.2073C>T NP_001316019.1:p.Ile691=
NM_004431.4:c.2235C>T NP_004422.2:p.Ile745=
NM_004431.5:c.2235C>T MANE Select NP_004422.2:p.Ile745=
NM_001329090.2:c.2073C>T NP_001316019.1:p.Ile691=