Canonical Allele Identifier: CA2662704364

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202467426-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467427dup , CM000664.2:g.202467427dup	GRCh38
NC_000002.11:g.203332150dup , CM000664.1:g.203332150dup	GRCh37
NC_000002.10:g.203040395dup	NCBI36
NG_009363.1:g.96101dup , LRG_712:g.96101dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.248-92dup MANE Select	ENSP00000363708.4:n.248-92dup
ENST00000638587.1:c.179-92dup	ENSP00000491062.1:n.179-92dup
ENST00000374574.2:c.248-92dup	ENSP00000363702.2:n.248-92dup
ENST00000374580.8:c.248-92dup	ENSP00000363708.4:n.248-92dup
ENST00000479069.1:n.155-92dup
NM_001204.6:c.248-92dup , LRG_712t1:c.248-92dup	NP_001195.2:n.248-92dup
XM_011511687.1:c.248-92dup	XP_011509989.1:n.248-92dup
XM_011511688.1:c.248-92dup	XP_011509990.1:n.248-92dup
NM_001204.7:c.248-92dup MANE Select	NP_001195.2:n.248-92dup