Canonical Allele Identifier: CA763421966

Gene: BMPR2

Linked Data

• dbSNP Id: rs1347936657
• MyVariant Identifiers: chr2:g.203336959T>G (hg19) ; chr2:g.202472236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202472236T>G , CM000664.2:g.202472236T>G	GRCh38
NC_000002.11:g.203336959T>G , CM000664.1:g.203336959T>G	GRCh37
NC_000002.10:g.203045204T>G	NCBI36
NG_009363.1:g.100910T>G , LRG_712:g.100910T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+4547T>G MANE Select	ENSP00000363708.4:n.418+4547T>G
ENST00000638587.1:c.349+4547T>G	ENSP00000491062.1:n.349+4547T>G
ENST00000374574.2:c.418+4547T>G	ENSP00000363702.2:n.418+4547T>G
ENST00000374580.8:c.418+4547T>G	ENSP00000363708.4:n.418+4547T>G
ENST00000479069.1:n.326-2472T>G
NM_001204.6:c.418+4547T>G , LRG_712t1:c.418+4547T>G	NP_001195.2:n.418+4547T>G
XM_011511687.1:c.418+4547T>G	XP_011509989.1:n.418+4547T>G
XM_011511688.1:c.418+4547T>G	XP_011509990.1:n.418+4547T>G
NM_001204.7:c.418+4547T>G MANE Select	NP_001195.2:n.418+4547T>G