Canonical Allele Identifier: CA18328612

Gene: EPHA2

Linked Data

• dbSNP Id: rs1038224468
• gnomAD v2: 1-16458553-A-G
• gnomAD v3: 1-16132058-A-G
• gnomAD v4: 1-16132058-A-G
• MyVariant Identifiers: chr1:g.16458553A>G (hg19) ; chr1:g.16132058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16132058A>G , CM000663.2:g.16132058A>G	GRCh38
NC_000001.10:g.16458553A>G , CM000663.1:g.16458553A>G	GRCh37
NC_000001.9:g.16331140A>G	NCBI36
NG_021396.1:g.29030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358432.8:c.2325+6T>C MANE Select	ENSP00000351209.5:n.2325+6T>C
ENST00000358432.7:c.2325+6T>C	ENSP00000351209.5:n.2325+6T>C
NM_004431.3:c.2325+6T>C	NP_004422.2:n.2325+6T>C
NM_001329090.1:c.2163+6T>C	NP_001316019.1:n.2163+6T>C
NM_004431.4:c.2325+6T>C	NP_004422.2:n.2325+6T>C
NM_004431.5:c.2325+6T>C MANE Select	NP_004422.2:n.2325+6T>C
NM_001329090.2:c.2163+6T>C	NP_001316019.1:n.2163+6T>C