Canonical Allele Identifier: CA64533040

Gene: BMPR2

Linked Data

• dbSNP Id: rs959249962
• gnomAD v3: 2-202472326-CAA-C
• gnomAD v4: 2-202472326-CAA-C
• MyVariant Identifiers: chr2:g.203337050_203337051del (hg19) ; chr2:g.202472327_202472328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202472328_202472329del , CM000664.2:g.202472328_202472329del	GRCh38
NC_000002.11:g.203337051_203337052del , CM000664.1:g.203337051_203337052del	GRCh37
NC_000002.10:g.203045296_203045297del	NCBI36
NG_009363.1:g.101002_101003del , LRG_712:g.101002_101003del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+4639_418+4640del MANE Select	ENSP00000363708.4:n.418+4639_418+4640del
ENST00000638587.1:c.349+4639_349+4640del	ENSP00000491062.1:n.349+4639_349+4640del
ENST00000374574.2:c.418+4639_418+4640del	ENSP00000363702.2:n.418+4639_418+4640del
ENST00000374580.8:c.418+4639_418+4640del	ENSP00000363708.4:n.418+4639_418+4640del
ENST00000479069.1:n.326-2380_326-2379del
NM_001204.6:c.418+4639_418+4640del , LRG_712t1:c.418+4639_418+4640del	NP_001195.2:n.418+4639_418+4640del
XM_011511687.1:c.418+4639_418+4640del	XP_011509989.1:n.418+4639_418+4640del
XM_011511688.1:c.418+4639_418+4640del	XP_011509990.1:n.418+4639_418+4640del
NM_001204.7:c.418+4639_418+4640del MANE Select	NP_001195.2:n.418+4639_418+4640del