Canonical Allele Identifier: CA350347031

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203420375T>G (hg19) ; chr2:g.202555652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555652T>G , CM000664.2:g.202555652T>G	GRCh38
NC_000002.11:g.203420375T>G , CM000664.1:g.203420375T>G	GRCh37
NC_000002.10:g.203128620T>G	NCBI36
NG_009363.1:g.184326T>G , LRG_712:g.184326T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1987T>G MANE Select	ENSP00000363708.4:p.Leu663Val
ENST00000638587.1:c.1918T>G	ENSP00000491062.1:n.1918T>G
ENST00000374574.2:c.1586+2764T>G	ENSP00000363702.2:n.1586+2764T>G
ENST00000374580.8:c.1987T>G	ENSP00000363708.4:p.Leu663Val
NM_001204.6:c.1987T>G , LRG_712t1:c.1987T>G	NP_001195.2:p.Leu663Val
XM_011511687.1:c.1987T>G	XP_011509989.1:p.Leu663Val
XM_011511688.1:c.1586+2764T>G	XP_011509990.1:n.1586+2764T>G
NM_001204.7:c.1987T>G MANE Select	NP_001195.2:p.Leu663Val