Canonical Allele Identifier: CA538977894

Gene: BMPR2

Linked Data

• dbSNP Id: rs1187299572
• gnomAD v2: 2-203406936-AT-A
• gnomAD v4: 2-202542213-AT-A
• MyVariant Identifiers: chr2:g.203406937del (hg19) ; chr2:g.202542214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542221del , CM000664.2:g.202542221del	GRCh38
NC_000002.11:g.203406944del , CM000664.1:g.203406944del	GRCh37
NC_000002.10:g.203115189del	NCBI36
NG_009363.1:g.170895del , LRG_712:g.170895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1277-90del MANE Select	ENSP00000363708.4:n.1277-90del
ENST00000638587.1:c.1208-90del	ENSP00000491062.1:n.1208-90del
ENST00000374574.2:c.1277-90del	ENSP00000363702.2:n.1277-90del
ENST00000374580.8:c.1277-90del	ENSP00000363708.4:n.1277-90del
NM_001204.6:c.1277-90del , LRG_712t1:c.1277-90del	NP_001195.2:n.1277-90del
XM_011511687.1:c.1277-90del	XP_011509989.1:n.1277-90del
XM_011511688.1:c.1277-90del	XP_011509990.1:n.1277-90del
NM_001204.7:c.1277-90del MANE Select	NP_001195.2:n.1277-90del