Canonical Allele Identifier: CA14748950
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1005464
gnomAD v2: 20-6756148-G-A
gnomAD v3: 20-6775501-G-A
gnomAD v4: 20-6775501-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6775501G>A , CM000682.2:g.6775501G>A GRCh38
NC_000020.10:g.6756148G>A , CM000682.1:g.6756148G>A GRCh37
NC_000020.9:g.6704148G>A NCBI36
NG_023233.1:g.12404G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.347-2744G>A MANE Select ENSP00000368104.3:n.347-2744G>A
ENST00000378827.4:c.347-2744G>A ENSP00000368104.3:n.347-2744G>A
NM_001200.2:c.347-2744G>A NP_001191.1:n.347-2744G>A
XM_011529323.1:c.-122-2744G>A XP_011527625.1:n.-122-2744G>A
NM_001200.3:c.347-2744G>A NP_001191.1:n.347-2744G>A
NM_001200.4:c.347-2744G>A MANE Select NP_001191.1:n.347-2744G>A