Canonical Allele Identifier: CA338642677
Gene: EPHA2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.16148915T>C
GRCh37 chr1:g.16475410T>C
Revel Score:
ENST00000358432 (MANE Select) 0.077
gnomAD v2:
1:16475410 T / C
gnomAD v3:
1:16148915 T / C
gnomAD v4:
chr1-16148915-T-C
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00001583 (SAS)
dbSNP:
1058371
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16148915T>C , CM000663.2:g.16148915T>C GRCh38
NC_000001.10:g.16475410T>C , CM000663.1:g.16475410T>C GRCh37
NC_000001.9:g.16347997T>C NCBI36
NG_021396.1:g.12173A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.286A>G MANE Select ENSP00000351209.5:p.Ile96Val
ENST00000358432.7:c.286A>G ENSP00000351209.5:p.Ile96Val
ENST00000461614.1:n.338A>G
NM_004431.3:c.286A>G NP_004422.2:p.Ile96Val
NM_001329090.1:c.124A>G NP_001316019.1:p.Ile42Val
NM_004431.4:c.286A>G NP_004422.2:p.Ile96Val
XM_017000537.1:c.286A>G XP_016856026.1:p.Ile96Val
NM_004431.5:c.286A>G MANE Select NP_004422.2:p.Ile96Val
NM_001329090.2:c.124A>G NP_001316019.1:p.Ile42Val
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