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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:
CA378125100
Gene: ABCC2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.101596013C>A (hg19)
chr10:g.99836256C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99836256C>A , CM000672.2:g.99836256C>A
GRCh38
NC_000010.10:g.101596013C>A , CM000672.1:g.101596013C>A
GRCh37
NC_000010.9:g.101586003C>A
NCBI36
NG_011798.1:g.58551C>A
NG_011798.2:g.58659C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647814.1:c.3580C>A
MANE Select
ENSP00000497274.1:p.Gln1194Lys
ENST00000370449.8:c.3580C>A
ENSP00000359478.4:p.Gln1194Lys
NM_000392.4:c.3580C>A
NP_000383.1:p.Gln1194Lys
XM_006717630.2:c.2884C>A
XP_006717693.1:p.Gln962Lys
XR_945604.1:n.3769C>A
XR_945605.1:n.3771C>A
NM_000392.5:c.3580C>A
MANE Select
NP_000383.2:p.Gln1194Lys
XM_006717630.3:c.2884C>A
XP_006717693.1:p.Gln962Lys
XR_945604.3:n.3823C>A
XR_945605.3:n.3823C>A
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