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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:
CA311471094
Gene: BMP2
HGNC
NCBI
Linked Data
dbSNP Id:
rs867523846
gnomAD v2:
20-6750783-G-A
gnomAD v4:
20-6770136-G-A
MyVariant Identifiers:
chr20:g.6750783G>A (hg19)
chr20:g.6770136G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6770136G>A , CM000682.2:g.6770136G>A
GRCh38
NC_000020.10:g.6750783G>A , CM000682.1:g.6750783G>A
GRCh37
NC_000020.9:g.6698783G>A
NCBI36
NG_023233.1:g.7039G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000378827.5:c.10G>A
MANE Select
ENSP00000368104.3:p.Gly4Arg
ENST00000378827.4:c.10G>A
ENSP00000368104.3:p.Gly4Arg
NM_001200.2:c.10G>A
NP_001191.1:p.Gly4Arg
XM_011529323.1:c.-123+1261G>A
XP_011527625.1:n.-123+1261G>A
NM_001200.3:c.10G>A
NP_001191.1:p.Gly4Arg
NM_001200.4:c.10G>A
MANE Select
NP_001191.1:p.Gly4Arg
Search 100 bp 5'
Search 100 bp 3'