Canonical Allele Identifier: CA1041345553

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688510947
• gnomAD v3: 2-202553127-TTCTC-T
• gnomAD v4: 2-202553127-TTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202553129_202553132del , CM000664.2:g.202553129_202553132del	GRCh38
NC_000002.11:g.203417852_203417855del , CM000664.1:g.203417852_203417855del	GRCh37
NC_000002.10:g.203126097_203126100del	NCBI36
NG_009363.1:g.181803_181806del , LRG_712:g.181803_181806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1586+241_1586+244del MANE Select	ENSP00000363708.4:n.1586+241_1586+244del
ENST00000638587.1:c.1517+241_1517+244del	ENSP00000491062.1:n.1517+241_1517+244del
ENST00000374574.2:c.1586+241_1586+244del	ENSP00000363702.2:n.1586+241_1586+244del
ENST00000374580.8:c.1586+241_1586+244del	ENSP00000363708.4:n.1586+241_1586+244del
NM_001204.6:c.1586+241_1586+244del , LRG_712t1:c.1586+241_1586+244del	NP_001195.2:n.1586+241_1586+244del
XM_011511687.1:c.1586+241_1586+244del	XP_011509989.1:n.1586+241_1586+244del
XM_011511688.1:c.1586+241_1586+244del	XP_011509990.1:n.1586+241_1586+244del
NM_001204.7:c.1586+241_1586+244del MANE Select	NP_001195.2:n.1586+241_1586+244del