Canonical Allele Identifier: CA1321510759

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467691_202467693delinsTAA , CM000664.2:g.202467691_202467693delinsTAA	GRCh38
NC_000002.11:g.203332414_203332416delinsTAA , CM000664.1:g.203332414_203332416delinsTAA	GRCh37
NC_000002.10:g.203040659_203040661delinsTAA	NCBI36
NG_009363.1:g.96365_96367delinsTAA , LRG_712:g.96365_96367delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.418+2_418+4delinsTAA MANE Select	ENSP00000363708.4:n.418+2_418+4delinsTAA
ENST00000638587.1:c.349+2_349+4delinsTAA	ENSP00000491062.1:n.349+2_349+4delinsTAA
ENST00000374574.2:c.418+2_418+4delinsTAA	ENSP00000363702.2:n.418+2_418+4delinsTAA
ENST00000374580.8:c.418+2_418+4delinsTAA	ENSP00000363708.4:n.418+2_418+4delinsTAA
ENST00000479069.1:n.325+2_325+4delinsTAA
NM_001204.6:c.418+2_418+4delinsTAA , LRG_712t1:c.418+2_418+4delinsTAA	NP_001195.2:n.418+2_418+4delinsTAA
XM_011511687.1:c.418+2_418+4delinsTAA	XP_011509989.1:n.418+2_418+4delinsTAA
XM_011511688.1:c.418+2_418+4delinsTAA	XP_011509990.1:n.418+2_418+4delinsTAA
NM_001204.7:c.418+2_418+4delinsTAA MANE Select	NP_001195.2:n.418+2_418+4delinsTAA