Canonical Allele Identifier: CA624869
Gene: EPHA2 HGNC NCBI

Linked Data

dbSNP Id: rs752213403
gnomAD v2: 1-16458544-C-T
gnomAD v4: 1-16132049-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16132049C>T , CM000663.2:g.16132049C>T GRCh38
NC_000001.10:g.16458544C>T , CM000663.1:g.16458544C>T GRCh37
NC_000001.9:g.16331131C>T NCBI36
NG_021396.1:g.29039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.2325+15G>A MANE Select ENSP00000351209.5:n.2325+15G>A
ENST00000358432.7:c.2325+15G>A ENSP00000351209.5:n.2325+15G>A
NM_004431.3:c.2325+15G>A NP_004422.2:n.2325+15G>A
NM_001329090.1:c.2163+15G>A NP_001316019.1:n.2163+15G>A
NM_004431.4:c.2325+15G>A NP_004422.2:n.2325+15G>A
NM_004431.5:c.2325+15G>A MANE Select NP_004422.2:n.2325+15G>A
NM_001329090.2:c.2163+15G>A NP_001316019.1:n.2163+15G>A