Canonical Allele Identifier: CA2348108520
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1986359241
gnomAD v4: 20-6770071-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770071G>A , CM000682.2:g.6770071G>A GRCh38
NC_000020.10:g.6750718G>A , CM000682.1:g.6750718G>A GRCh37
NC_000020.9:g.6698718G>A NCBI36
NG_023233.1:g.6974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.-7-49G>A MANE Select ENSP00000368104.3:n.-7-49G>A
ENST00000378827.4:c.-7-49G>A ENSP00000368104.3:n.-7-49G>A
NM_001200.2:c.-7-49G>A NP_001191.1:n.-7-49G>A
XM_011529323.1:c.-123+1196G>A XP_011527625.1:n.-123+1196G>A
NM_001200.3:c.-7-49G>A NP_001191.1:n.-7-49G>A
NM_001200.4:c.-7-49G>A MANE Select NP_001191.1:n.-7-49G>A
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