Canonical Allele Identifier: CA202297
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196322
ClinVar RCV Id: RCV000177127 RCV000990280 RCV001512888
dbSNP Id: rs235768
ExAC: 20:6759115 A / T
gnomAD v2: 20-6759115-A-T
gnomAD v3: 20-6778468-A-T
gnomAD v4: 20-6778468-A-T
MyVariant Identifiers: chr20:g.6759115A>T (hg19) chr20:g.6778468A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778468A>T , CM000682.2:g.6778468A>T GRCh38
NC_000020.10:g.6759115A>T , CM000682.1:g.6759115A>T GRCh37
NC_000020.9:g.6707115A>T NCBI36
NG_023233.1:g.15371A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.570A>T MANE Select ENSP00000368104.3:p.Arg190Ser
ENST00000378827.4:c.570A>T ENSP00000368104.3:p.Arg190Ser
NM_001200.2:c.570A>T NP_001191.1:p.Arg190Ser
XM_011529323.1:c.102A>T XP_011527625.1:p.Arg34Ser
NM_001200.3:c.570A>T NP_001191.1:p.Arg190Ser
NM_001200.4:c.570A>T MANE Select NP_001191.1:p.Arg190Ser
Search 100 bp 5'
Search 100 bp 3'