Canonical Allele Identifier: CA1321545692

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532702_202532706delinsATATT , CM000664.2:g.202532702_202532706delinsATATT	GRCh38
NC_000002.11:g.203397425_203397429delinsATATT , CM000664.1:g.203397425_203397429delinsATATT	GRCh37
NC_000002.10:g.203105670_203105674delinsATATT	NCBI36
NG_009363.1:g.161376_161380delinsATATT , LRG_712:g.161376_161380delinsATATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1246_1250delinsATATT MANE Select	ENSP00000363708.4:p.Ile416=
ENST00000638587.1:c.1177_1181delinsATATT	ENSP00000491062.1:p.Ile393=
ENST00000374574.2:c.1246_1250delinsATATT	ENSP00000363702.2:p.Ile416=
ENST00000374580.8:c.1246_1250delinsATATT	ENSP00000363708.4:p.Ile416=
NM_001204.6:c.1246_1250delinsATATT , LRG_712t1:c.1246_1250delinsATATT	NP_001195.2:p.Ile416=
XM_011511687.1:c.1246_1250delinsATATT	XP_011509989.1:p.Ile416=
XM_011511688.1:c.1246_1250delinsATATT	XP_011509990.1:p.Ile416=
NM_001204.7:c.1246_1250delinsATATT MANE Select	NP_001195.2:p.Ile416=