Canonical Allele Identifier: CA763418309

Gene: BMPR2

Linked Data

• dbSNP Id: rs1196119221
• MyVariant Identifiers: chr2:g.203241254_203241277del (hg19) ; chr2:g.202376531_202376554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202376536_202376559del , CM000664.2:g.202376536_202376559del	GRCh38
NC_000002.11:g.203241259_203241282del , CM000664.1:g.203241259_203241282del	GRCh37
NC_000002.10:g.202949504_202949527del	NCBI36
NG_009363.1:g.5210_5233del , LRG_712:g.5210_5233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.-939_-916del MANE Select	ENSP00000363708.4:n.-939_-916del
NM_001204.6:c.-939_-916del , LRG_712t1:c.-939_-916del	NP_001195.2:n.-939_-916del
XM_011511687.1:c.-939_-916del	XP_011509989.1:n.-939_-916del
XM_011511688.1:c.-939_-916del	XP_011509990.1:n.-939_-916del
NM_001204.7:c.-939_-916del MANE Select	NP_001195.2:n.-939_-916del