Canonical Allele Identifier: CA311471096
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs974052081
gnomAD v2: 20-6750790-G-C
gnomAD v3: 20-6770143-G-C
gnomAD v4: 20-6770143-G-C
MyVariant Identifiers: chr20:g.6750790G>C (hg19) chr20:g.6770143G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770143G>C , CM000682.2:g.6770143G>C GRCh38
NC_000020.10:g.6750790G>C , CM000682.1:g.6750790G>C GRCh37
NC_000020.9:g.6698790G>C NCBI36
NG_023233.1:g.7046G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.17G>C MANE Select ENSP00000368104.3:p.Arg6Pro
ENST00000378827.4:c.17G>C ENSP00000368104.3:p.Arg6Pro
NM_001200.2:c.17G>C NP_001191.1:p.Arg6Pro
XM_011529323.1:c.-123+1268G>C XP_011527625.1:n.-123+1268G>C
NM_001200.3:c.17G>C NP_001191.1:p.Arg6Pro
NM_001200.4:c.17G>C MANE Select NP_001191.1:p.Arg6Pro
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