Canonical Allele Identifier: CA763442754

Gene: BMPR2

Linked Data

• dbSNP Id: rs1473712294
• gnomAD v4: 2-202542207-GAC-G
• MyVariant Identifiers: chr2:g.203406931_203406932del (hg19) ; chr2:g.202542208_202542209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542211_202542212del , CM000664.2:g.202542211_202542212del	GRCh38
NC_000002.11:g.203406934_203406935del , CM000664.1:g.203406934_203406935del	GRCh37
NC_000002.10:g.203115179_203115180del	NCBI36
NG_009363.1:g.170885_170886del , LRG_712:g.170885_170886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1277-100_1277-99del MANE Select	ENSP00000363708.4:n.1277-100_1277-99del
ENST00000638587.1:c.1208-100_1208-99del	ENSP00000491062.1:n.1208-100_1208-99del
ENST00000374574.2:c.1277-100_1277-99del	ENSP00000363702.2:n.1277-100_1277-99del
ENST00000374580.8:c.1277-100_1277-99del	ENSP00000363708.4:n.1277-100_1277-99del
NM_001204.6:c.1277-100_1277-99del , LRG_712t1:c.1277-100_1277-99del	NP_001195.2:n.1277-100_1277-99del
XM_011511687.1:c.1277-100_1277-99del	XP_011509989.1:n.1277-100_1277-99del
XM_011511688.1:c.1277-100_1277-99del	XP_011509990.1:n.1277-100_1277-99del
NM_001204.7:c.1277-100_1277-99del MANE Select	NP_001195.2:n.1277-100_1277-99del