Canonical Allele Identifier: CA2577215668

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202532549-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532550_202532551dup , CM000664.2:g.202532550_202532551dup	GRCh38
NC_000002.11:g.203397273_203397274dup , CM000664.1:g.203397273_203397274dup	GRCh37
NC_000002.10:g.203105518_203105519dup	NCBI36
NG_009363.1:g.161224_161225dup , LRG_712:g.161224_161225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1129-35_1129-34dup MANE Select	ENSP00000363708.4:n.1129-35_1129-34dup
ENST00000638587.1:c.1060-35_1060-34dup	ENSP00000491062.1:n.1060-35_1060-34dup
ENST00000374574.2:c.1129-35_1129-34dup	ENSP00000363702.2:n.1129-35_1129-34dup
ENST00000374580.8:c.1129-35_1129-34dup	ENSP00000363708.4:n.1129-35_1129-34dup
NM_001204.6:c.1129-35_1129-34dup , LRG_712t1:c.1129-35_1129-34dup	NP_001195.2:n.1129-35_1129-34dup
XM_011511687.1:c.1129-35_1129-34dup	XP_011509989.1:n.1129-35_1129-34dup
XM_011511688.1:c.1129-35_1129-34dup	XP_011509990.1:n.1129-35_1129-34dup
NM_001204.7:c.1129-35_1129-34dup MANE Select	NP_001195.2:n.1129-35_1129-34dup