Canonical Allele Identifier: CA408258516

Gene: BMP2

Linked Data

• MyVariant Identifiers: chr20:g.6759062A>T (hg19) ; chr20:g.6778415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6778415A>T , CM000682.2:g.6778415A>T	GRCh38
NC_000020.10:g.6759062A>T , CM000682.1:g.6759062A>T	GRCh37
NC_000020.9:g.6707062A>T	NCBI36
NG_023233.1:g.15318A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378827.5:c.517A>T MANE Select	ENSP00000368104.3:p.Ile173Phe
ENST00000378827.4:c.517A>T	ENSP00000368104.3:p.Ile173Phe
NM_001200.2:c.517A>T	NP_001191.1:p.Ile173Phe
XM_011529323.1:c.49A>T	XP_011527625.1:p.Ile17Phe
NM_001200.3:c.517A>T	NP_001191.1:p.Ile173Phe
NM_001200.4:c.517A>T MANE Select	NP_001191.1:p.Ile173Phe