Canonical Allele Identifier: CA1321539709

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518960_202518962delinsCAT , CM000664.2:g.202518960_202518962delinsCAT	GRCh38
NC_000002.11:g.203383683_203383685delinsCAT , CM000664.1:g.203383683_203383685delinsCAT	GRCh37
NC_000002.10:g.203091928_203091930delinsCAT	NCBI36
NG_009363.1:g.147634_147636delinsCAT , LRG_712:g.147634_147636delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.760_762delinsCAT MANE Select	ENSP00000363708.4:p.His254=
ENST00000638587.1:c.691_693delinsCAT	ENSP00000491062.1:p.His231=
ENST00000374574.2:c.760_762delinsCAT	ENSP00000363702.2:p.His254=
ENST00000374580.8:c.760_762delinsCAT	ENSP00000363708.4:p.His254=
NM_001204.6:c.760_762delinsCAT , LRG_712t1:c.760_762delinsCAT	NP_001195.2:p.His254=
XM_011511687.1:c.760_762delinsCAT	XP_011509989.1:p.His254=
XM_011511688.1:c.760_762delinsCAT	XP_011509990.1:p.His254=
NM_001204.7:c.760_762delinsCAT MANE Select	NP_001195.2:p.His254=