Canonical Allele Identifier: CA624863
Gene: EPHA2 HGNC NCBI

Linked Data

dbSNP Id: rs773120871
gnomAD v2: 1-16458519-G-A
gnomAD v3: 1-16132024-G-A
gnomAD v4: 1-16132024-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16132024G>A , CM000663.2:g.16132024G>A GRCh38
NC_000001.10:g.16458519G>A , CM000663.1:g.16458519G>A GRCh37
NC_000001.9:g.16331106G>A NCBI36
NG_021396.1:g.29064C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.2325+40C>T MANE Select ENSP00000351209.5:n.2325+40C>T
ENST00000358432.7:c.2325+40C>T ENSP00000351209.5:n.2325+40C>T
NM_004431.3:c.2325+40C>T NP_004422.2:n.2325+40C>T
NM_001329090.1:c.2163+40C>T NP_001316019.1:n.2163+40C>T
NM_004431.4:c.2325+40C>T NP_004422.2:n.2325+40C>T
NM_004431.5:c.2325+40C>T MANE Select NP_004422.2:n.2325+40C>T
NM_001329090.2:c.2163+40C>T NP_001316019.1:n.2163+40C>T