Canonical Allele Identifier: CA763450400

Gene: BMPR2

Linked Data

• dbSNP Id: rs1340756866
• gnomAD v3: 2-202552619-G-GT
• gnomAD v4: 2-202552619-G-GT
• MyVariant Identifiers: chr2:g.203417342_203417343insT (hg19) ; chr2:g.202552619_202552620insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552620dup , CM000664.2:g.202552620dup	GRCh38
NC_000002.11:g.203417343dup , CM000664.1:g.203417343dup	GRCh37
NC_000002.10:g.203125588dup	NCBI36
NG_009363.1:g.181294dup , LRG_712:g.181294dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1414-96dup MANE Select	ENSP00000363708.4:n.1414-96dup
ENST00000638587.1:c.1345-96dup	ENSP00000491062.1:n.1345-96dup
ENST00000374574.2:c.1414-96dup	ENSP00000363702.2:n.1414-96dup
ENST00000374580.8:c.1414-96dup	ENSP00000363708.4:n.1414-96dup
NM_001204.6:c.1414-96dup , LRG_712t1:c.1414-96dup	NP_001195.2:n.1414-96dup
XM_011511687.1:c.1414-96dup	XP_011509989.1:n.1414-96dup
XM_011511688.1:c.1414-96dup	XP_011509990.1:n.1414-96dup
NM_001204.7:c.1414-96dup MANE Select	NP_001195.2:n.1414-96dup