Canonical Allele Identifier: CA539387764

Gene: BMPR2

Linked Data

• dbSNP Id: rs1559046461
• gnomAD v2: 2-203329396-TAGAAATTTATGTAA-T
• MyVariant Identifiers: chr2:g.203329397_203329410del (hg19) ; chr2:g.202464674_202464687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464677_202464690del , CM000664.2:g.202464677_202464690del	GRCh38
NC_000002.11:g.203329400_203329413del , CM000664.1:g.203329400_203329413del	GRCh37
NC_000002.10:g.203037645_203037658del	NCBI36
NG_009363.1:g.93351_93364del , LRG_712:g.93351_93364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.77-132_77-119del MANE Select	ENSP00000363708.4:n.77-132_77-119del
ENST00000374574.2:c.77-132_77-119del	ENSP00000363702.2:n.77-132_77-119del
ENST00000374580.8:c.77-132_77-119del	ENSP00000363708.4:n.77-132_77-119del
NM_001204.6:c.77-132_77-119del , LRG_712t1:c.77-132_77-119del	NP_001195.2:n.77-132_77-119del
XM_011511687.1:c.77-132_77-119del	XP_011509989.1:n.77-132_77-119del
XM_011511688.1:c.77-132_77-119del	XP_011509990.1:n.77-132_77-119del
NM_001204.7:c.77-132_77-119del MANE Select	NP_001195.2:n.77-132_77-119del