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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
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Canonical Allele Identifier:
CA338622384
Gene: EPHA2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.16458639T>A (hg19)
chr1:g.16132144T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.16132144T>A , CM000663.2:g.16132144T>A
GRCh38
NC_000001.10:g.16458639T>A , CM000663.1:g.16458639T>A
GRCh37
NC_000001.9:g.16331226T>A
NCBI36
NG_021396.1:g.28944A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000358432.8:c.2245A>T
MANE Select
ENSP00000351209.5:p.Ser749Cys
ENST00000358432.7:c.2245A>T
ENSP00000351209.5:p.Ser749Cys
NM_004431.3:c.2245A>T
NP_004422.2:p.Ser749Cys
NM_001329090.1:c.2083A>T
NP_001316019.1:p.Ser695Cys
NM_004431.4:c.2245A>T
NP_004422.2:p.Ser749Cys
NM_004431.5:c.2245A>T
MANE Select
NP_004422.2:p.Ser749Cys
NM_001329090.2:c.2083A>T
NP_001316019.1:p.Ser695Cys
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