Canonical Allele Identifier: CA9758611
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396590
ClinVar RCV Id: RCV001903059
dbSNP Id: rs773801167
ExAC: 20:6750945 C / T
gnomAD v2: 20-6750945-C-T
gnomAD v3: 20-6770298-C-T
gnomAD v4: 20-6770298-C-T
MyVariant Identifiers: chr20:g.6750945C>T (hg19) chr20:g.6770298C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770298C>T , CM000682.2:g.6770298C>T GRCh38
NC_000020.10:g.6750945C>T , CM000682.1:g.6750945C>T GRCh37
NC_000020.9:g.6698945C>T NCBI36
NG_023233.1:g.7201C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.172C>T MANE Select ENSP00000368104.3:p.Leu58Phe
ENST00000378827.4:c.172C>T ENSP00000368104.3:p.Leu58Phe
NM_001200.2:c.172C>T NP_001191.1:p.Leu58Phe
XM_011529323.1:c.-123+1423C>T XP_011527625.1:n.-123+1423C>T
NM_001200.3:c.172C>T NP_001191.1:p.Leu58Phe
NM_001200.4:c.172C>T MANE Select NP_001191.1:p.Leu58Phe
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