Canonical Allele Identifier: CA122982
Gene: EPHA2 HGNC NCBI
COSMIC:
COSM5993115 (not active)
MyVariant.info:
GRCh38 chr1:g.16132227C>T
GRCh37 chr1:g.16458722C>T
Revel Score:
ENST00000358432 (MANE Select) 0.460
gnomAD v2:
1:16458722 C / T
gnomAD v3:
1:16132227 C / T
gnomAD v4:
chr1-16132227-C-T
Joint Max Group AF 0.00142598 (NFE)
Genomes Max Group AF 0.00090166 (NFE)
Exomes Max Group AF 0.00144671 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16132227C>T , CM000663.2:g.16132227C>T GRCh38
NC_000001.10:g.16458722C>T , CM000663.1:g.16458722C>T GRCh37
NC_000001.9:g.16331309C>T NCBI36
NG_021396.1:g.28861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.2162G>A MANE Select ENSP00000351209.5:p.Arg721Gln
ENST00000358432.7:c.2162G>A ENSP00000351209.5:p.Arg721Gln
NM_004431.3:c.2162G>A NP_004422.2:p.Arg721Gln
NM_001329090.1:c.2000G>A NP_001316019.1:p.Arg667Gln
NM_004431.4:c.2162G>A NP_004422.2:p.Arg721Gln
NM_004431.5:c.2162G>A MANE Select NP_004422.2:p.Arg721Gln
NM_001329090.2:c.2000G>A NP_001316019.1:p.Arg667Gln
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