Canonical Allele Identifier: CA350337863

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203378452T>A (hg19) ; chr2:g.202513729T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513729T>A , CM000664.2:g.202513729T>A	GRCh38
NC_000002.11:g.203378452T>A , CM000664.1:g.203378452T>A	GRCh37
NC_000002.10:g.203086697T>A	NCBI36
NG_009363.1:g.142403T>A , LRG_712:g.142403T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.429T>A MANE Select	ENSP00000363708.4:p.His143Gln
ENST00000638587.1:c.360T>A	ENSP00000491062.1:p.His120Gln
ENST00000374574.2:c.429T>A	ENSP00000363702.2:p.His143Gln
ENST00000374580.8:c.429T>A	ENSP00000363708.4:p.His143Gln
NM_001204.6:c.429T>A , LRG_712t1:c.429T>A	NP_001195.2:p.His143Gln
XM_011511687.1:c.429T>A	XP_011509989.1:p.His143Gln
XM_011511688.1:c.429T>A	XP_011509990.1:p.His143Gln
NM_001204.7:c.429T>A MANE Select	NP_001195.2:p.His143Gln