Canonical Allele Identifier: CA1321545614

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532522_202532539delinsTAATGTCTGTTCTTCAGA , CM000664.2:g.202532522_202532539delinsTAATGTCTGTTCTTCAGA	GRCh38
NC_000002.11:g.203397245_203397262delinsTAATGTCTGTTCTTCAGA , CM000664.1:g.203397245_203397262delinsTAATGTCTGTTCTTCAGA	GRCh37
NC_000002.10:g.203105490_203105507delinsTAATGTCTGTTCTTCAGA	NCBI36
NG_009363.1:g.161196_161213delinsTAATGTCTGTTCTTCAGA , LRG_712:g.161196_161213delinsTAATGTCTGTTCTTCAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA MANE Select	ENSP00000363708.4:n.1129-63_1129-46delins...
ENST00000638587.1:c.1060-63_1060-46delinsTAATGTCTGTTCTTCAGA	ENSP00000491062.1:n.1060-63_1060-46delins...
ENST00000374574.2:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA	ENSP00000363702.2:n.1129-63_1129-46delins...
ENST00000374580.8:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA	ENSP00000363708.4:n.1129-63_1129-46delins...
NM_001204.6:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA , LRG_712t1:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA	NP_001195.2:n.1129-63_1129-46delinsTAATGT...
XM_011511687.1:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA	XP_011509989.1:n.1129-63_1129-46delinsTAA...
XM_011511688.1:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA	XP_011509990.1:n.1129-63_1129-46delinsTAA...
NM_001204.7:c.1129-63_1129-46delinsTAATGTCTGTTCTTCAGA MANE Select	NP_001195.2:n.1129-63_1129-46delinsTAATGT...