Canonical Allele Identifier: CA408260574
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452466
ClinVar RCV Id: RCV001999827
dbSNP Id: rs1464127693
gnomAD v4: 20-6770391-C-T
MyVariant Identifiers: chr20:g.6751038C>T (hg19) chr20:g.6770391C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770391C>T , CM000682.2:g.6770391C>T GRCh38
NC_000020.10:g.6751038C>T , CM000682.1:g.6751038C>T GRCh37
NC_000020.9:g.6699038C>T NCBI36
NG_023233.1:g.7294C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.265C>T MANE Select ENSP00000368104.3:p.Gln89Ter
ENST00000378827.4:c.265C>T ENSP00000368104.3:p.Gln89Ter
NM_001200.2:c.265C>T NP_001191.1:p.Gln89Ter
XM_011529323.1:c.-123+1516C>T XP_011527625.1:n.-123+1516C>T
NM_001200.3:c.265C>T NP_001191.1:p.Gln89Ter
NM_001200.4:c.265C>T MANE Select NP_001191.1:p.Gln89Ter
Search 100 bp 5'
Search 100 bp 3'