Canonical Allele Identifier: CA509817789
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6759136G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778489G>T , CM000682.2:g.6778489G>T GRCh38
NC_000020.10:g.6759136G>T , CM000682.1:g.6759136G>T GRCh37
NC_000020.9:g.6707136G>T NCBI36
NG_023233.1:g.15392G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.591G>T MANE Select ENSP00000368104.3:p.Val197=
ENST00000378827.4:c.591G>T ENSP00000368104.3:p.Val197=
NM_001200.2:c.591G>T NP_001191.1:p.Val197=
XM_011529323.1:c.123G>T XP_011527625.1:p.Val41=
NM_001200.3:c.591G>T NP_001191.1:p.Val197=
NM_001200.4:c.591G>T MANE Select NP_001191.1:p.Val197=