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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:
CA353855964
Gene: IMPG2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.100962471A>T (hg19)
chr3:g.101243627A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.101243627A>T , CM000665.2:g.101243627A>T
GRCh38
NC_000003.11:g.100962471A>T , CM000665.1:g.100962471A>T
GRCh37
NC_000003.10:g.102445161A>T
NCBI36
NG_028284.1:g.81949T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000193391.8:c.2704T>A
MANE Select
ENSP00000193391.6:p.Phe902Ile
ENST00000193391.7:c.2704T>A
ENSP00000193391.6:p.Phe902Ile
NM_016247.3:c.2704T>A
NP_057331.2:p.Phe902Ile
XM_011512871.1:c.2410T>A
XP_011511173.1:p.Phe804Ile
XM_011512872.1:c.2293T>A
XP_011511174.1:p.Phe765Ile
NM_016247.4:c.2704T>A
MANE Select
NP_057331.2:p.Phe902Ile
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