Canonical Allele Identifier: CA891843104

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 568737
• ClinVar RCV Id: RCV002232887
• dbSNP Id: rs1559073178
• gnomAD v4: 2-202552814-T-TA
• MyVariant Identifiers: chr2:g.203417538dup (hg19) ; chr2:g.202552815dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552815dup , CM000664.2:g.202552815dup	GRCh38
NC_000002.11:g.203417538dup , CM000664.1:g.203417538dup	GRCh37
NC_000002.10:g.203125783dup	NCBI36
NG_009363.1:g.181489dup , LRG_712:g.181489dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1513dup MANE Select	ENSP00000363708.4:p.Met505AsnfsTer24
ENST00000638587.1:c.1444dup	ENSP00000491062.1:p.Met482AsnfsTer24
ENST00000374574.2:c.1513dup	ENSP00000363702.2:p.Met505AsnfsTer24
ENST00000374580.8:c.1513dup	ENSP00000363708.4:p.Met505AsnfsTer24
NM_001204.6:c.1513dup , LRG_712t1:c.1513dup	NP_001195.2:p.Met505AsnfsTer24
XM_011511687.1:c.1513dup	XP_011509989.1:p.Met505AsnfsTer24
XM_011511688.1:c.1513dup	XP_011509990.1:p.Met505AsnfsTer24
NM_001204.7:c.1513dup MANE Select	NP_001195.2:p.Met505AsnfsTer24