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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:
CA408258680
Gene: BMP2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.6759139T>G (hg19)
chr20:g.6778492T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6778492T>G , CM000682.2:g.6778492T>G
GRCh38
NC_000020.10:g.6759139T>G , CM000682.1:g.6759139T>G
GRCh37
NC_000020.9:g.6707139T>G
NCBI36
NG_023233.1:g.15395T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378827.5:c.594T>G
MANE Select
ENSP00000368104.3:p.Asn198Lys
ENST00000378827.4:c.594T>G
ENSP00000368104.3:p.Asn198Lys
NM_001200.2:c.594T>G
NP_001191.1:p.Asn198Lys
XM_011529323.1:c.126T>G
XP_011527625.1:p.Asn42Lys
NM_001200.3:c.594T>G
NP_001191.1:p.Asn198Lys
NM_001200.4:c.594T>G
MANE Select
NP_001191.1:p.Asn198Lys
Search 100 bp 5'
Search 100 bp 3'