Canonical Allele Identifier: CA9758697
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2183444
ClinVar RCV Id: RCV002599616
dbSNP Id: rs775969696
ExAC: 20:6759084 C / T
gnomAD v2: 20-6759084-C-T
gnomAD v4: 20-6778437-C-T
MyVariant Identifiers: chr20:g.6759084C>T (hg19) chr20:g.6778437C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778437C>T , CM000682.2:g.6778437C>T GRCh38
NC_000020.10:g.6759084C>T , CM000682.1:g.6759084C>T GRCh37
NC_000020.9:g.6707084C>T NCBI36
NG_023233.1:g.15340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.539C>T MANE Select ENSP00000368104.3:p.Ala180Val
ENST00000378827.4:c.539C>T ENSP00000368104.3:p.Ala180Val
NM_001200.2:c.539C>T NP_001191.1:p.Ala180Val
XM_011529323.1:c.71C>T XP_011527625.1:p.Ala24Val
NM_001200.3:c.539C>T NP_001191.1:p.Ala180Val
NM_001200.4:c.539C>T MANE Select NP_001191.1:p.Ala180Val
Search 100 bp 5'
Search 100 bp 3'