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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:
CA350396502
Gene: BMPR2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.203242198A>T (hg19)
chr2:g.202377475A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.202377475A>T , CM000664.2:g.202377475A>T
GRCh38
NC_000002.11:g.203242198A>T , CM000664.1:g.203242198A>T
GRCh37
NC_000002.10:g.202950443A>T
NCBI36
NG_009363.1:g.6149A>T , LRG_712:g.6149A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000374580.10:c.1A>T
MANE Select
ENSP00000363708.4:p.Met1Leu
ENST00000374574.2:c.1A>T
ENSP00000363702.2:p.Met1Leu
ENST00000374580.8:c.1A>T
ENSP00000363708.4:p.Met1Leu
NM_001204.6:c.1A>T , LRG_712t1:c.1A>T
NP_001195.2:p.Met1Leu
XM_011511687.1:c.1A>T
XP_011509989.1:p.Met1Leu
XM_011511688.1:c.1A>T
XP_011509990.1:p.Met1Leu
NM_001204.7:c.1A>T
MANE Select
NP_001195.2:p.Met1Leu
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