Canonical Allele Identifier: CA625332
Gene: EPHA2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.16138117G>T
GRCh37 chr1:g.16464612G>T
Revel Score:
ENST00000358432 (MANE Select) 0.254
gnomAD v2:
1:16464612 G / T
gnomAD v3:
1:16138117 G / T
gnomAD v4:
chr1-16138117-G-T
Joint Max Group AF 0.00258305 (NFE)
Genomes Max Group AF 0.00273093 (NFE)
Exomes Max Group AF 0.00255593 (NFE)
ClinVar RCV:
RCV000340843
ClinVar Variation:
293437
dbSNP:
11543934
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16138117G>T , CM000663.2:g.16138117G>T GRCh38
NC_000001.10:g.16464612G>T , CM000663.1:g.16464612G>T GRCh37
NC_000001.9:g.16337199G>T NCBI36
NG_021396.1:g.22971C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.1048C>A MANE Select ENSP00000351209.5:p.Pro350Thr
ENST00000358432.7:c.1048C>A ENSP00000351209.5:p.Pro350Thr
ENST00000480202.1:n.253C>A
NM_004431.3:c.1048C>A NP_004422.2:p.Pro350Thr
NM_001329090.1:c.886C>A NP_001316019.1:p.Pro296Thr
NM_004431.4:c.1048C>A NP_004422.2:p.Pro350Thr
XM_017000537.1:c.1048C>A XP_016856026.1:p.Pro350Thr
NM_004431.5:c.1048C>A MANE Select NP_004422.2:p.Pro350Thr
NM_001329090.2:c.886C>A NP_001316019.1:p.Pro296Thr
Search 100 bp 5'
Search 100 bp 3'