Canonical Allele Identifier: CA9758634
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441788
ClinVar RCV Id: RCV001950724
dbSNP Id: rs373345005
ExAC: 20:6751044 G / T
gnomAD v2: 20-6751044-G-T
gnomAD v3: 20-6770397-G-T
gnomAD v4: 20-6770397-G-T
MyVariant Identifiers: chr20:g.6751044G>T (hg19) chr20:g.6770397G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770397G>T , CM000682.2:g.6770397G>T GRCh38
NC_000020.10:g.6751044G>T , CM000682.1:g.6751044G>T GRCh37
NC_000020.9:g.6699044G>T NCBI36
NG_023233.1:g.7300G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.271G>T MANE Select ENSP00000368104.3:p.Gly91Cys
ENST00000378827.4:c.271G>T ENSP00000368104.3:p.Gly91Cys
NM_001200.2:c.271G>T NP_001191.1:p.Gly91Cys
XM_011529323.1:c.-123+1522G>T XP_011527625.1:n.-123+1522G>T
NM_001200.3:c.271G>T NP_001191.1:p.Gly91Cys
NM_001200.4:c.271G>T MANE Select NP_001191.1:p.Gly91Cys
Search 100 bp 5'
Search 100 bp 3'