Canonical Allele Identifier: CA9758722
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs755006479
ExAC: 20:6759187 G / A
gnomAD v2: 20-6759187-G-A
gnomAD v4: 20-6778540-G-A
MyVariant Identifiers: chr20:g.6759187G>A (hg19) chr20:g.6778540G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778540G>A , CM000682.2:g.6778540G>A GRCh38
NC_000020.10:g.6759187G>A , CM000682.1:g.6759187G>A GRCh37
NC_000020.9:g.6707187G>A NCBI36
NG_023233.1:g.15443G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.642G>A MANE Select ENSP00000368104.3:p.Met214Ile
ENST00000378827.4:c.642G>A ENSP00000368104.3:p.Met214Ile
NM_001200.2:c.642G>A NP_001191.1:p.Met214Ile
XM_011529323.1:c.174G>A XP_011527625.1:p.Met58Ile
NM_001200.3:c.642G>A NP_001191.1:p.Met214Ile
NM_001200.4:c.642G>A MANE Select NP_001191.1:p.Met214Ile
Search 100 bp 5'
Search 100 bp 3'