Canonical Allele Identifier: CA539387820

Gene: BMPR2

Linked Data

• dbSNP Id: rs1300890179
• gnomAD v2: 2-203332414-TAAGTA-T
• gnomAD v3: 2-202467691-TAAGTA-T
• gnomAD v4: 2-202467691-TAAGTA-T
• MyVariant Identifiers: chr2:g.203332415_203332419del (hg19) ; chr2:g.202467692_202467696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467698_202467702del , CM000664.2:g.202467698_202467702del	GRCh38
NC_000002.11:g.203332421_203332425del , CM000664.1:g.203332421_203332425del	GRCh37
NC_000002.10:g.203040666_203040670del	NCBI36
NG_009363.1:g.96372_96376del , LRG_712:g.96372_96376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+9_418+13del MANE Select	ENSP00000363708.4:n.418+9_418+13del
ENST00000638587.1:c.349+9_349+13del	ENSP00000491062.1:n.349+9_349+13del
ENST00000374574.2:c.418+9_418+13del	ENSP00000363702.2:n.418+9_418+13del
ENST00000374580.8:c.418+9_418+13del	ENSP00000363708.4:n.418+9_418+13del
ENST00000479069.1:n.325+9_325+13del
NM_001204.6:c.418+9_418+13del , LRG_712t1:c.418+9_418+13del	NP_001195.2:n.418+9_418+13del
XM_011511687.1:c.418+9_418+13del	XP_011509989.1:n.418+9_418+13del
XM_011511688.1:c.418+9_418+13del	XP_011509990.1:n.418+9_418+13del
NM_001204.7:c.418+9_418+13del MANE Select	NP_001195.2:n.418+9_418+13del