×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA338622400
Gene: EPHA2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.16458647A>T (hg19)
chr1:g.16132152A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.16132152A>T , CM000663.2:g.16132152A>T
GRCh38
NC_000001.10:g.16458647A>T , CM000663.1:g.16458647A>T
GRCh37
NC_000001.9:g.16331234A>T
NCBI36
NG_021396.1:g.28936T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000358432.8:c.2237T>A
MANE Select
ENSP00000351209.5:p.Leu746His
ENST00000358432.7:c.2237T>A
ENSP00000351209.5:p.Leu746His
NM_004431.3:c.2237T>A
NP_004422.2:p.Leu746His
NM_001329090.1:c.2075T>A
NP_001316019.1:p.Leu692His
NM_004431.4:c.2237T>A
NP_004422.2:p.Leu746His
NM_004431.5:c.2237T>A
MANE Select
NP_004422.2:p.Leu746His
NM_001329090.2:c.2075T>A
NP_001316019.1:p.Leu692His
Search 100 bp 5'
Search 100 bp 3'