Canonical Allele Identifier: CA624887

Gene: EPHA2

Linked Data

• ClinVar Variation Id: 703074
• ClinVar RCV Id: RCV000872492
• dbSNP Id: rs145981210
• ExAC: 1:16458646 G / A
• gnomAD v2: 1-16458646-G-A
• gnomAD v3: 1-16132151-G-A
• gnomAD v4: 1-16132151-G-A
• MyVariant Identifiers: chr1:g.16458646G>A (hg19) ; chr1:g.16132151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16132151G>A , CM000663.2:g.16132151G>A	GRCh38
NC_000001.10:g.16458646G>A , CM000663.1:g.16458646G>A	GRCh37
NC_000001.9:g.16331233G>A	NCBI36
NG_021396.1:g.28937C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358432.8:c.2238C>T MANE Select	ENSP00000351209.5:p.Leu746=
ENST00000358432.7:c.2238C>T	ENSP00000351209.5:p.Leu746=
NM_004431.3:c.2238C>T	NP_004422.2:p.Leu746=
NM_001329090.1:c.2076C>T	NP_001316019.1:p.Leu692=
NM_004431.4:c.2238C>T	NP_004422.2:p.Leu746=
NM_004431.5:c.2238C>T MANE Select	NP_004422.2:p.Leu746=
NM_001329090.2:c.2076C>T	NP_001316019.1:p.Leu692=