Canonical Allele Identifier: CA1321559081

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555668_202555669delinsTA , CM000664.2:g.202555668_202555669delinsTA	GRCh38
NC_000002.11:g.203420391_203420392delinsTA , CM000664.1:g.203420391_203420392delinsTA	GRCh37
NC_000002.10:g.203128636_203128637delinsTA	NCBI36
NG_009363.1:g.184342_184343delinsTA , LRG_712:g.184342_184343delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2003_2004delinsTA MANE Select	ENSP00000363708.4:p.Leu668=
ENST00000638587.1:c.1934_1935delinsTA	ENSP00000491062.1:n.1934_1935delinsTA
ENST00000374574.2:c.1586+2780_1586+2781delinsTA	ENSP00000363702.2:n.1586+2780_1586+2781delinsTA
ENST00000374580.8:c.2003_2004delinsTA	ENSP00000363708.4:p.Leu668=
NM_001204.6:c.2003_2004delinsTA , LRG_712t1:c.2003_2004delinsTA	NP_001195.2:p.Leu668=
XM_011511687.1:c.2003_2004delinsTA	XP_011509989.1:p.Leu668=
XM_011511688.1:c.1586+2780_1586+2781delinsTA	XP_011509990.1:n.1586+2780_1586+2781delinsTA
NM_001204.7:c.2003_2004delinsTA MANE Select	NP_001195.2:p.Leu668=