Canonical Allele Identifier: CA1321545751

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532802_202532803delinsTA , CM000664.2:g.202532802_202532803delinsTA	GRCh38
NC_000002.11:g.203397525_203397526delinsTA , CM000664.1:g.203397525_203397526delinsTA	GRCh37
NC_000002.10:g.203105770_203105771delinsTA	NCBI36
NG_009363.1:g.161476_161477delinsTA , LRG_712:g.161476_161477delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+70_1276+71delinsTA MANE Select	ENSP00000363708.4:n.1276+70_1276+71delinsTA
ENST00000638587.1:c.1207+70_1207+71delinsTA	ENSP00000491062.1:n.1207+70_1207+71delinsTA
ENST00000374574.2:c.1276+70_1276+71delinsTA	ENSP00000363702.2:n.1276+70_1276+71delinsTA
ENST00000374580.8:c.1276+70_1276+71delinsTA	ENSP00000363708.4:n.1276+70_1276+71delinsTA
NM_001204.6:c.1276+70_1276+71delinsTA , LRG_712t1:c.1276+70_1276+71delinsTA	NP_001195.2:n.1276+70_1276+71delinsTA
XM_011511687.1:c.1276+70_1276+71delinsTA	XP_011509989.1:n.1276+70_1276+71delinsTA
XM_011511688.1:c.1276+70_1276+71delinsTA	XP_011509990.1:n.1276+70_1276+71delinsTA
NM_001204.7:c.1276+70_1276+71delinsTA MANE Select	NP_001195.2:n.1276+70_1276+71delinsTA