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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:
CA64522353
Gene: BMPR2
HGNC
NCBI
Linked Data
dbSNP Id:
rs988842901
MyVariant Identifiers:
chr2:g.203242150del (hg19)
chr2:g.202377427del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.202377428del , CM000664.2:g.202377428del
GRCh38
NC_000002.11:g.203242151del , CM000664.1:g.203242151del
GRCh37
NC_000002.10:g.202950396del
NCBI36
NG_009363.1:g.6102del , LRG_712:g.6102del
Transcript Alleles
HGVS
Amino-acid change
ENST00000374580.10:c.-47del
MANE Select
ENSP00000363708.4:n.-47del
ENST00000374580.8:c.-47del
ENSP00000363708.4:n.-47del
NM_001204.6:c.-47del , LRG_712t1:c.-47del
NP_001195.2:n.-47del
XM_011511687.1:c.-47del
XP_011509989.1:n.-47del
XM_011511688.1:c.-47del
XP_011509990.1:n.-47del
NM_001204.7:c.-47del
MANE Select
NP_001195.2:n.-47del
Search 100 bp 5'
Search 100 bp 3'