Canonical Allele Identifier: CA763442663

Gene: BMPR2

Linked Data

• dbSNP Id: rs1391021040
• gnomAD v3: 2-202542095-AG-A
• gnomAD v4: 2-202542095-AG-A
• MyVariant Identifiers: chr2:g.203406819del (hg19) ; chr2:g.202542096del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542096del , CM000664.2:g.202542096del	GRCh38
NC_000002.11:g.203406819del , CM000664.1:g.203406819del	GRCh37
NC_000002.10:g.203115064del	NCBI36
NG_009363.1:g.170770del , LRG_712:g.170770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1277-215del MANE Select	ENSP00000363708.4:n.1277-215del
ENST00000638587.1:c.1208-215del	ENSP00000491062.1:n.1208-215del
ENST00000374574.2:c.1277-215del	ENSP00000363702.2:n.1277-215del
ENST00000374580.8:c.1277-215del	ENSP00000363708.4:n.1277-215del
NM_001204.6:c.1277-215del , LRG_712t1:c.1277-215del	NP_001195.2:n.1277-215del
XM_011511687.1:c.1277-215del	XP_011509989.1:n.1277-215del
XM_011511688.1:c.1277-215del	XP_011509990.1:n.1277-215del
NM_001204.7:c.1277-215del MANE Select	NP_001195.2:n.1277-215del