Canonical Allele Identifier: CA338622381
Gene: EPHA2 HGNC NCBI

Linked Data

dbSNP Id: rs1287005112
gnomAD v2: 1-16458638-C-T
gnomAD v4: 1-16132143-C-T
COSMIC: COSM2088684
MyVariant Identifiers: chr1:g.16458638C>T (hg19) chr1:g.16132143C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16132143C>T , CM000663.2:g.16132143C>T GRCh38
NC_000001.10:g.16458638C>T , CM000663.1:g.16458638C>T GRCh37
NC_000001.9:g.16331225C>T NCBI36
NG_021396.1:g.28945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358432.8:c.2246G>A MANE Select ENSP00000351209.5:p.Ser749Asn
ENST00000358432.7:c.2246G>A ENSP00000351209.5:p.Ser749Asn
NM_004431.3:c.2246G>A NP_004422.2:p.Ser749Asn
NM_001329090.1:c.2084G>A NP_001316019.1:p.Ser695Asn
NM_004431.4:c.2246G>A NP_004422.2:p.Ser749Asn
NM_004431.5:c.2246G>A MANE Select NP_004422.2:p.Ser749Asn
NM_001329090.2:c.2084G>A NP_001316019.1:p.Ser695Asn
Search 100 bp 5'
Search 100 bp 3'