Canonical Allele Identifier: CA658761128

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377484_202377485dup , CM000664.2:g.202377484_202377485dup	GRCh38
NC_000002.11:g.203242207_203242208dup , CM000664.1:g.203242207_203242208dup	GRCh37
NC_000002.10:g.202950452_202950453dup	NCBI36
NG_009363.1:g.6158_6159dup , LRG_712:g.6158_6159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.10_11dup MANE Select	ENSP00000363708.4:p.Leu5ArgfsTer?
ENST00000374574.2:c.10_11dup	ENSP00000363702.2:p.Leu5ArgfsTer?
ENST00000374580.8:c.10_11dup	ENSP00000363708.4:p.Leu5ArgfsTer?
NM_001204.6:c.10_11dup , LRG_712t1:c.10_11dup	NP_001195.2:p.Leu5ArgfsTer?
XM_011511687.1:c.10_11dup	XP_011509989.1:p.Leu5ArgfsTer?
XM_011511688.1:c.10_11dup	XP_011509990.1:p.Leu5ArgfsTer?
NM_001204.7:c.10_11dup MANE Select	NP_001195.2:p.Leu5ArgfsTer?