Canonical Allele Identifier: CA14748950
Gene: BMP2 HGNC NCBI
dbSNP:
1005464
gnomAD v2:
20:6756148 G / A
gnomAD v3:
20:6775501 G / A
gnomAD v4:
chr20-6775501-G-A
Joint Max Group AF 0.34926741 (EAS)
Genomes Max Group AF 0.34926741 (EAS)
MyVariant.info:
GRCh38 chr20:g.6775501G>A
GRCh37 chr20:g.6756148G>A
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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
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