Canonical Allele Identifier: CA408258438
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1986544271
gnomAD v3: 20-6778385-A-C
gnomAD v4: 20-6778385-A-C
MyVariant Identifiers: chr20:g.6759032A>C (hg19) chr20:g.6778385A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778385A>C , CM000682.2:g.6778385A>C GRCh38
NC_000020.10:g.6759032A>C , CM000682.1:g.6759032A>C GRCh37
NC_000020.9:g.6707032A>C NCBI36
NG_023233.1:g.15288A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.487A>C MANE Select ENSP00000368104.3:p.Asn163His
ENST00000378827.4:c.487A>C ENSP00000368104.3:p.Asn163His
NM_001200.2:c.487A>C NP_001191.1:p.Asn163His
XM_011529323.1:c.19A>C XP_011527625.1:p.Asn7His
NM_001200.3:c.487A>C NP_001191.1:p.Asn163His
NM_001200.4:c.487A>C MANE Select NP_001191.1:p.Asn163His
Search 100 bp 5'
Search 100 bp 3'