Canonical Allele Identifier: CA350399138

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1387800
• ClinVar RCV Id: RCV001908225
• dbSNP Id: rs137852755
• MyVariant Identifiers: chr2:g.203329575T>A (hg19) ; chr2:g.202464852T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464852T>A , CM000664.2:g.202464852T>A	GRCh38
NC_000002.11:g.203329575T>A , CM000664.1:g.203329575T>A	GRCh37
NC_000002.10:g.203037820T>A	NCBI36
NG_009363.1:g.93526T>A , LRG_712:g.93526T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.120T>A MANE Select	ENSP00000363708.4:p.Tyr40Ter
ENST00000638587.1:c.45T>A	ENSP00000491062.1:p.Tyr15Ter
ENST00000374574.2:c.120T>A	ENSP00000363702.2:p.Tyr40Ter
ENST00000374580.8:c.120T>A	ENSP00000363708.4:p.Tyr40Ter
ENST00000479069.1:n.27T>A
NM_001204.6:c.120T>A , LRG_712t1:c.120T>A	NP_001195.2:p.Tyr40Ter
XM_011511687.1:c.120T>A	XP_011509989.1:p.Tyr40Ter
XM_011511688.1:c.120T>A	XP_011509990.1:p.Tyr40Ter
NM_001204.7:c.120T>A MANE Select	NP_001195.2:p.Tyr40Ter