Canonical Allele Identifier: CA1321474852

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377779_202377793delinsCCTTTACGGGGTGAA , CM000664.2:g.202377779_202377793delinsCCTTTACGGGGTGAA	GRCh38
NC_000002.11:g.203242502_203242516delinsCCTTTACGGGGTGAA , CM000664.1:g.203242502_203242516delinsCCTTTACGGGGTGAA	GRCh37
NC_000002.10:g.202950747_202950761delinsCCTTTACGGGGTGAA	NCBI36
NG_009363.1:g.6453_6467delinsCCTTTACGGGGTGAA , LRG_712:g.6453_6467delinsCCTTTACGGGGTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+229_76+243delinsCCTTTACGGGGTGAA MANE Select	ENSP00000363708.4:n.76+229_76+243delinsCCTTTACGGGGTGAA
ENST00000374574.2:c.76+229_76+243delinsCCTTTACGGGGTGAA	ENSP00000363702.2:n.76+229_76+243delinsCCTTTACGGGGTGAA
ENST00000374580.8:c.76+229_76+243delinsCCTTTACGGGGTGAA	ENSP00000363708.4:n.76+229_76+243delinsCCTTTACGGGGTGAA
NM_001204.6:c.76+229_76+243delinsCCTTTACGGGGTGAA , LRG_712t1:c.76+229_76+243delinsCCTTTACGGGGTGAA	NP_001195.2:n.76+229_76+243delinsCCTTTACGGGGTGAA
XM_011511687.1:c.76+229_76+243delinsCCTTTACGGGGTGAA	XP_011509989.1:n.76+229_76+243delinsCCTTTACGGGGTGAA
XM_011511688.1:c.76+229_76+243delinsCCTTTACGGGGTGAA	XP_011509990.1:n.76+229_76+243delinsCCTTTACGGGGTGAA
NM_001204.7:c.76+229_76+243delinsCCTTTACGGGGTGAA MANE Select	NP_001195.2:n.76+229_76+243delinsCCTTTACGGGGTGAA