Canonical Allele Identifier: CA2662706180

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202530966-C-CAAAAGGTATCACACTGATGTACTTTGAAATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530967_202530998dup , CM000664.2:g.202530967_202530998dup	GRCh38
NC_000002.11:g.203395690_203395721dup , CM000664.1:g.203395690_203395721dup	GRCh37
NC_000002.10:g.203103935_203103966dup	NCBI36
NG_009363.1:g.159641_159672dup , LRG_712:g.159641_159672dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1128+13_1128+44dup MANE Select	ENSP00000363708.4:n.1128+13_1128+44dup
ENST00000638587.1:c.1059+13_1059+44dup	ENSP00000491062.1:n.1059+13_1059+44dup
ENST00000374574.2:c.1128+13_1128+44dup	ENSP00000363702.2:n.1128+13_1128+44dup
ENST00000374580.8:c.1128+13_1128+44dup	ENSP00000363708.4:n.1128+13_1128+44dup
NM_001204.6:c.1128+13_1128+44dup , LRG_712t1:c.1128+13_1128+44dup	NP_001195.2:n.1128+13_1128+44dup
XM_011511687.1:c.1128+13_1128+44dup	XP_011509989.1:n.1128+13_1128+44dup
XM_011511688.1:c.1128+13_1128+44dup	XP_011509990.1:n.1128+13_1128+44dup
NM_001204.7:c.1128+13_1128+44dup MANE Select	NP_001195.2:n.1128+13_1128+44dup