Canonical Allele Identifier: CA311471095
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 850711
ClinVar RCV Id: RCV001054939 RCV001334869 RCV004031738
dbSNP Id: rs961599421
gnomAD v2: 20-6750789-C-T
gnomAD v3: 20-6770142-C-T
gnomAD v4: 20-6770142-C-T
MyVariant Identifiers: chr20:g.6750789C>T (hg19) chr20:g.6770142C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770142C>T , CM000682.2:g.6770142C>T GRCh38
NC_000020.10:g.6750789C>T , CM000682.1:g.6750789C>T GRCh37
NC_000020.9:g.6698789C>T NCBI36
NG_023233.1:g.7045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.16C>T MANE Select ENSP00000368104.3:p.Arg6Cys
ENST00000378827.4:c.16C>T ENSP00000368104.3:p.Arg6Cys
NM_001200.2:c.16C>T NP_001191.1:p.Arg6Cys
XM_011529323.1:c.-123+1267C>T XP_011527625.1:n.-123+1267C>T
NM_001200.3:c.16C>T NP_001191.1:p.Arg6Cys
NM_001200.4:c.16C>T MANE Select NP_001191.1:p.Arg6Cys
Search 100 bp 5'
Search 100 bp 3'