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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:
CA637734881
Gene: KCNE2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1228606550
gnomAD v2:
21-35742578-T-TA
gnomAD v3:
21-34370279-T-TA
gnomAD v4:
21-34370279-T-TA
MyVariant Identifiers:
chr21:g.35742578_35742579insA (hg19)
chr21:g.34370279_34370280insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370286dup , CM000683.2:g.34370286dup
GRCh38
NC_000021.8:g.35742585dup , CM000683.1:g.35742585dup
GRCh37
NC_000021.7:g.34664455dup
NCBI36
NG_008804.1:g.11263dup , LRG_291:g.11263dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000290310.4:c.-12-181dup
MANE Select
ENSP00000290310.2:n.-12-181dup
ENST00000290310.3:c.-12-181dup
ENSP00000290310.2:n.-12-181dup
NM_172201.1:c.-12-181dup , LRG_291t1:c.-12-181dup
NP_751951.1:n.-12-181dup
XR_937683.1:n.886+155dup
XR_937684.1:n.886+155dup
XR_001755012.2:n.1162dup
XR_001755013.2:n.1041dup
XR_937683.2:n.886+155dup
NM_172201.2:c.-12-181dup
MANE Select
NP_751951.1:n.-12-181dup
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