Canonical Allele Identifier: CA311471088
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs974200174
gnomAD v2: 20-6750714-G-C
gnomAD v3: 20-6770067-G-C
gnomAD v4: 20-6770067-G-C
MyVariant Identifiers: chr20:g.6750714G>C (hg19) chr20:g.6770067G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770067G>C , CM000682.2:g.6770067G>C GRCh38
NC_000020.10:g.6750714G>C , CM000682.1:g.6750714G>C GRCh37
NC_000020.9:g.6698714G>C NCBI36
NG_023233.1:g.6970G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.-7-53G>C MANE Select ENSP00000368104.3:n.-7-53G>C
ENST00000378827.4:c.-7-53G>C ENSP00000368104.3:n.-7-53G>C
NM_001200.2:c.-7-53G>C NP_001191.1:n.-7-53G>C
XM_011529323.1:c.-123+1192G>C XP_011527625.1:n.-123+1192G>C
NM_001200.3:c.-7-53G>C NP_001191.1:n.-7-53G>C
NM_001200.4:c.-7-53G>C MANE Select NP_001191.1:n.-7-53G>C
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