Canonical Allele Identifier: CA2573134354

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1423038
• ClinVar RCV Id: RCV001926433
• dbSNP Id: rs2105962408

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467680dup , CM000664.2:g.202467680dup	GRCh38
NC_000002.11:g.203332403dup , CM000664.1:g.203332403dup	GRCh37
NC_000002.10:g.203040648dup	NCBI36
NG_009363.1:g.96354dup , LRG_712:g.96354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.409dup MANE Select	ENSP00000363708.4:p.Thr137AsnfsTer10
ENST00000638587.1:c.340dup	ENSP00000491062.1:p.Thr114AsnfsTer10
ENST00000374574.2:c.409dup	ENSP00000363702.2:p.Thr137AsnfsTer10
ENST00000374580.8:c.409dup	ENSP00000363708.4:p.Thr137AsnfsTer10
ENST00000479069.1:n.316dup
NM_001204.6:c.409dup , LRG_712t1:c.409dup	NP_001195.2:p.Thr137AsnfsTer10
XM_011511687.1:c.409dup	XP_011509989.1:p.Thr137AsnfsTer10
XM_011511688.1:c.409dup	XP_011509990.1:p.Thr137AsnfsTer10
NM_001204.7:c.409dup MANE Select	NP_001195.2:p.Thr137AsnfsTer10