Canonical Allele Identifier: CA1321545666

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532652_202532653delinsCA , CM000664.2:g.202532652_202532653delinsCA	GRCh38
NC_000002.11:g.203397375_203397376delinsCA , CM000664.1:g.203397375_203397376delinsCA	GRCh37
NC_000002.10:g.203105620_203105621delinsCA	NCBI36
NG_009363.1:g.161326_161327delinsCA , LRG_712:g.161326_161327delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1196_1197delinsCA MANE Select	ENSP00000363708.4:p.Ser399=
ENST00000638587.1:c.1127_1128delinsCA	ENSP00000491062.1:p.Ser376=
ENST00000374574.2:c.1196_1197delinsCA	ENSP00000363702.2:p.Ser399=
ENST00000374580.8:c.1196_1197delinsCA	ENSP00000363708.4:p.Ser399=
NM_001204.6:c.1196_1197delinsCA , LRG_712t1:c.1196_1197delinsCA	NP_001195.2:p.Ser399=
XM_011511687.1:c.1196_1197delinsCA	XP_011509989.1:p.Ser399=
XM_011511688.1:c.1196_1197delinsCA	XP_011509990.1:p.Ser399=
NM_001204.7:c.1196_1197delinsCA MANE Select	NP_001195.2:p.Ser399=