Canonical Allele Identifier: CA539001161

Gene: BMPR2

Linked Data

• dbSNP Id: rs1389328696
• gnomAD v2: 2-203242396-AGCTGCGACCCGGTGCCTGC-A
• gnomAD v3: 2-202377673-AGCTGCGACCCGGTGCCTGC-A
• gnomAD v4: 2-202377673-AGCTGCGACCCGGTGCCTGC-A
• MyVariant Identifiers: chr2:g.203242397_203242415del (hg19) ; chr2:g.202377674_202377692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377676_202377694del , CM000664.2:g.202377676_202377694del	GRCh38
NC_000002.11:g.203242399_203242417del , CM000664.1:g.203242399_203242417del	GRCh37
NC_000002.10:g.202950644_202950662del	NCBI36
NG_009363.1:g.6350_6368del , LRG_712:g.6350_6368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+126_76+144del MANE Select	ENSP00000363708.4:n.76+126_76+144del
ENST00000374574.2:c.76+126_76+144del	ENSP00000363702.2:n.76+126_76+144del
ENST00000374580.8:c.76+126_76+144del	ENSP00000363708.4:n.76+126_76+144del
NM_001204.6:c.76+126_76+144del , LRG_712t1:c.76+126_76+144del	NP_001195.2:n.76+126_76+144del
XM_011511687.1:c.76+126_76+144del	XP_011509989.1:n.76+126_76+144del
XM_011511688.1:c.76+126_76+144del	XP_011509990.1:n.76+126_76+144del
NM_001204.7:c.76+126_76+144del MANE Select	NP_001195.2:n.76+126_76+144del