Canonical Allele Identifier: CA624673
Gene: EPHA2 HGNC NCBI
COSMIC:
COSM4142961 (not active)
MyVariant.info:
GRCh38 chr1:g.16125272G>A
GRCh37 chr1:g.16451767G>A
gnomAD v2:
1:16451767 G / A
gnomAD v3:
1:16125272 G / A
gnomAD v4:
chr1-16125272-G-A
Joint Max Group AF 0.35138374 (SAS)
Genomes Max Group AF 0.34342334 (SAS)
Exomes Max Group AF 0.35113543 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16125272G>A , CM000663.2:g.16125272G>A GRCh38
NC_000001.10:g.16451767G>A , CM000663.1:g.16451767G>A GRCh37
NC_000001.9:g.16324354G>A NCBI36
NG_021396.1:g.35816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.2874C>T MANE Select ENSP00000351209.5:p.Ile958=
ENST00000358432.7:c.2874C>T ENSP00000351209.5:p.Ile958=
NM_004431.3:c.2874C>T NP_004422.2:p.Ile958=
NM_001329090.1:c.2712C>T NP_001316019.1:p.Ile904=
NM_004431.4:c.2874C>T NP_004422.2:p.Ile958=
NM_004431.5:c.2874C>T MANE Select NP_004422.2:p.Ile958=
NM_001329090.2:c.2712C>T NP_001316019.1:p.Ile904=
Search 100 bp 5'
Search 100 bp 3'