Canonical Allele Identifier: CA408258825
Gene: BMP2 HGNC NCBI

Linked Data

gnomAD v4: 20-6778559-C-A
MyVariant Identifiers: chr20:g.6759206C>A (hg19) chr20:g.6778559C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778559C>A , CM000682.2:g.6778559C>A GRCh38
NC_000020.10:g.6759206C>A , CM000682.1:g.6759206C>A GRCh37
NC_000020.9:g.6707206C>A NCBI36
NG_023233.1:g.15462C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.661C>A MANE Select ENSP00000368104.3:p.His221Asn
ENST00000378827.4:c.661C>A ENSP00000368104.3:p.His221Asn
NM_001200.2:c.661C>A NP_001191.1:p.His221Asn
XM_011529323.1:c.193C>A XP_011527625.1:p.His65Asn
NM_001200.3:c.661C>A NP_001191.1:p.His221Asn
NM_001200.4:c.661C>A MANE Select NP_001191.1:p.His221Asn
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Search 100 bp 3'