Canonical Allele Identifier: CA2573051836

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1330302
• ClinVar RCV Id: RCV001801334
• dbSNP Id: rs2106042216

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552821_202552822insAT , CM000664.2:g.202552821_202552822insAT	GRCh38
NC_000002.11:g.203417544_203417545insAT , CM000664.1:g.203417544_203417545insAT	GRCh37
NC_000002.10:g.203125789_203125790insAT	NCBI36
NG_009363.1:g.181495_181496insAT , LRG_712:g.181495_181496insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1519_1520insAT MANE Select	ENSP00000363708.4:p.Ile507AsnfsTer9
ENST00000638587.1:c.1450_1451insAT	ENSP00000491062.1:p.Ile484AsnfsTer9
ENST00000374574.2:c.1519_1520insAT	ENSP00000363702.2:p.Ile507AsnfsTer9
ENST00000374580.8:c.1519_1520insAT	ENSP00000363708.4:p.Ile507AsnfsTer9
NM_001204.6:c.1519_1520insAT , LRG_712t1:c.1519_1520insAT	NP_001195.2:p.Ile507AsnfsTer9
XM_011511687.1:c.1519_1520insAT	XP_011509989.1:p.Ile507AsnfsTer9
XM_011511688.1:c.1519_1520insAT	XP_011509990.1:p.Ile507AsnfsTer9
NM_001204.7:c.1519_1520insAT MANE Select	NP_001195.2:p.Ile507AsnfsTer9