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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:
CA1586829301
Gene: NDUFA2
HGNC
NCBI
IK
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.140647646C= , CM000667.2:g.140647646C=
GRCh38
NC_000005.9:g.140027231C= , CM000667.1:g.140027231C=
GRCh37
NC_000005.8:g.140007415C=
NCBI36
NG_021417.1:g.5140G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000252102.8:c.-63G=
(NDUFA2)
ENSP00000252102.4:n.-63G=
ENST00000502960.1:n.126G=
(NDUFA2)
ENST00000513256.5:c.4+337C=
(IK)
ENSP00000425564.1:n.4+337C=
NM_001185012.1:c.-63G=
(NDUFA2)
NP_001171941.1:n.-63G=
NM_002488.4:c.-63G=
(NDUFA2)
NP_002479.1:n.-63G=
NR_033697.1:n.140G=
(NDUFA2)
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