Canonical Allele Identifier: CA509817893
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1049007
gnomAD v3: 20-6770387-A-T
gnomAD v4: 20-6770387-A-T
MyVariant Identifiers: chr20:g.6751034A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770387A>T , CM000682.2:g.6770387A>T GRCh38
NC_000020.10:g.6751034A>T , CM000682.1:g.6751034A>T GRCh37
NC_000020.9:g.6699034A>T NCBI36
NG_023233.1:g.7290A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.261A>T MANE Select ENSP00000368104.3:p.Ser87=
ENST00000378827.4:c.261A>T ENSP00000368104.3:p.Ser87=
NM_001200.2:c.261A>T NP_001191.1:p.Ser87=
XM_011529323.1:c.-123+1512A>T XP_011527625.1:n.-123+1512A>T
NM_001200.3:c.261A>T NP_001191.1:p.Ser87=
NM_001200.4:c.261A>T MANE Select NP_001191.1:p.Ser87=
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