Canonical Allele Identifier: CA430893249

Gene: BMPR2

Linked Data

• dbSNP Id: rs1690185998
• MyVariant Identifiers: chr2:g.203242577_203242579del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377858_202377860del , CM000664.2:g.202377858_202377860del	GRCh38
NC_000002.11:g.203242581_203242583del , CM000664.1:g.203242581_203242583del	GRCh37
NC_000002.10:g.202950826_202950828del	NCBI36
NG_009363.1:g.6532_6534del , LRG_712:g.6532_6534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+308_76+310del MANE Select	ENSP00000363708.4:n.76+308_76+310del
ENST00000374574.2:c.76+308_76+310del	ENSP00000363702.2:n.76+308_76+310del
ENST00000374580.8:c.76+308_76+310del	ENSP00000363708.4:n.76+308_76+310del
NM_001204.6:c.76+308_76+310del , LRG_712t1:c.76+308_76+310del	NP_001195.2:n.76+308_76+310del
XM_011511687.1:c.76+308_76+310del	XP_011509989.1:n.76+308_76+310del
XM_011511688.1:c.76+308_76+310del	XP_011509990.1:n.76+308_76+310del
NM_001204.7:c.76+308_76+310del MANE Select	NP_001195.2:n.76+308_76+310del