Canonical Allele Identifier: CA408258783
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1422724017
gnomAD v2: 20-6759185-A-G
gnomAD v4: 20-6778538-A-G
MyVariant Identifiers: chr20:g.6759185A>G (hg19) chr20:g.6778538A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778538A>G , CM000682.2:g.6778538A>G GRCh38
NC_000020.10:g.6759185A>G , CM000682.1:g.6759185A>G GRCh37
NC_000020.9:g.6707185A>G NCBI36
NG_023233.1:g.15441A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.640A>G MANE Select ENSP00000368104.3:p.Met214Val
ENST00000378827.4:c.640A>G ENSP00000368104.3:p.Met214Val
NM_001200.2:c.640A>G NP_001191.1:p.Met214Val
XM_011529323.1:c.172A>G XP_011527625.1:p.Met58Val
NM_001200.3:c.640A>G NP_001191.1:p.Met214Val
NM_001200.4:c.640A>G MANE Select NP_001191.1:p.Met214Val
Search 100 bp 5'
Search 100 bp 3'