Canonical Allele Identifier: CA1139657615

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 967816
• ClinVar RCV Id: RCV001242817
• dbSNP Id: rs1688050712

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532689_202532692dup , CM000664.2:g.202532689_202532692dup	GRCh38
NC_000002.11:g.203397412_203397415dup , CM000664.1:g.203397412_203397415dup	GRCh37
NC_000002.10:g.203105657_203105660dup	NCBI36
NG_009363.1:g.161363_161366dup , LRG_712:g.161363_161366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1233_1236dup MANE Select	ENSP00000363708.4:p.Tyr413AsnfsTer?
ENST00000638587.1:c.1164_1167dup	ENSP00000491062.1:p.Tyr390AsnfsTer?
ENST00000374574.2:c.1233_1236dup	ENSP00000363702.2:p.Tyr413AsnfsTer?
ENST00000374580.8:c.1233_1236dup	ENSP00000363708.4:p.Tyr413AsnfsTer?
NM_001204.6:c.1233_1236dup , LRG_712t1:c.1233_1236dup	NP_001195.2:p.Tyr413AsnfsTer?
XM_011511687.1:c.1233_1236dup	XP_011509989.1:p.Tyr413AsnfsTer?
XM_011511688.1:c.1233_1236dup	XP_011509990.1:p.Tyr413AsnfsTer?
NM_001204.7:c.1233_1236dup MANE Select	NP_001195.2:p.Tyr413AsnfsTer?