Canonical Allele Identifier: CA625484
Gene: EPHA2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.16148628C>T
GRCh37 chr1:g.16475123C>T
gnomAD v2:
1:16475123 C / T
gnomAD v3:
1:16148628 C / T
gnomAD v4:
chr1-16148628-C-T
Joint Max Group AF 0.43640745 (MID)
Genomes Max Group AF 0.33757676 (AMR)
Exomes Max Group AF 0.43546821 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16148628C>T , CM000663.2:g.16148628C>T GRCh38
NC_000001.10:g.16475123C>T , CM000663.1:g.16475123C>T GRCh37
NC_000001.9:g.16347710C>T NCBI36
NG_021396.1:g.12460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.573G>A MANE Select ENSP00000351209.5:p.Leu191=
ENST00000358432.7:c.573G>A ENSP00000351209.5:p.Leu191=
ENST00000461614.1:n.625G>A
NM_004431.3:c.573G>A NP_004422.2:p.Leu191=
NM_001329090.1:c.411G>A NP_001316019.1:p.Leu137=
NM_004431.4:c.573G>A NP_004422.2:p.Leu191=
XM_017000537.1:c.573G>A XP_016856026.1:p.Leu191=
NM_004431.5:c.573G>A MANE Select NP_004422.2:p.Leu191=
NM_001329090.2:c.411G>A NP_001316019.1:p.Leu137=
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