Canonical Allele Identifier: CA509817616
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs796654883
gnomAD v2: 20-6750864-A-C
gnomAD v4: 20-6770217-A-C
MyVariant Identifiers: chr20:g.6750864A>C (hg19) chr20:g.6770217A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770217A>C , CM000682.2:g.6770217A>C GRCh38
NC_000020.10:g.6750864A>C , CM000682.1:g.6750864A>C GRCh37
NC_000020.9:g.6698864A>C NCBI36
NG_023233.1:g.7120A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.91A>C MANE Select ENSP00000368104.3:p.Arg31=
ENST00000378827.4:c.91A>C ENSP00000368104.3:p.Arg31=
NM_001200.2:c.91A>C NP_001191.1:p.Arg31=
XM_011529323.1:c.-123+1342A>C XP_011527625.1:n.-123+1342A>C
NM_001200.3:c.91A>C NP_001191.1:p.Arg31=
NM_001200.4:c.91A>C MANE Select NP_001191.1:p.Arg31=
Search 100 bp 5'
Search 100 bp 3'