Canonical Allele Identifier: CA509817910
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1600170340
gnomAD v4: 20-6770399-C-T
MyVariant Identifiers: chr20:g.6751046C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770399C>T , CM000682.2:g.6770399C>T GRCh38
NC_000020.10:g.6751046C>T , CM000682.1:g.6751046C>T GRCh37
NC_000020.9:g.6699046C>T NCBI36
NG_023233.1:g.7302C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.273C>T MANE Select ENSP00000368104.3:p.Gly91=
ENST00000378827.4:c.273C>T ENSP00000368104.3:p.Gly91=
NM_001200.2:c.273C>T NP_001191.1:p.Gly91=
XM_011529323.1:c.-123+1524C>T XP_011527625.1:n.-123+1524C>T
NM_001200.3:c.273C>T NP_001191.1:p.Gly91=
NM_001200.4:c.273C>T MANE Select NP_001191.1:p.Gly91=