Canonical Allele Identifier: CA2586971017

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555934dup , CM000664.2:g.202555934dup	GRCh38
NC_000002.11:g.203420657dup , CM000664.1:g.203420657dup	GRCh37
NC_000002.10:g.203128902dup	NCBI36
NG_009363.1:g.184608dup , LRG_712:g.184608dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2269dup MANE Select	ENSP00000363708.4:p.Ser757LysfsTer?
ENST00000638587.1:c.2200dup	ENSP00000491062.1:n.2200dup
ENST00000374574.2:c.1586+3046dup	ENSP00000363702.2:n.1586+3046dup
ENST00000374580.8:c.2269dup	ENSP00000363708.4:p.Ser757LysfsTer?
NM_001204.6:c.2269dup , LRG_712t1:c.2269dup	NP_001195.2:p.Ser757LysfsTer?
XM_011511687.1:c.2269dup	XP_011509989.1:p.Ser757LysfsTer?
XM_011511688.1:c.1586+3046dup	XP_011509990.1:n.1586+3046dup
NM_001204.7:c.2269dup MANE Select	NP_001195.2:p.Ser757LysfsTer?