Canonical Allele Identifier: CA1321545863

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202533132_202533135delinsTTTC , CM000664.2:g.202533132_202533135delinsTTTC	GRCh38
NC_000002.11:g.203397855_203397858delinsTTTC , CM000664.1:g.203397855_203397858delinsTTTC	GRCh37
NC_000002.10:g.203106100_203106103delinsTTTC	NCBI36
NG_009363.1:g.161806_161809delinsTTTC , LRG_712:g.161806_161809delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+400_1276+403delinsTTTC MANE Select	ENSP00000363708.4:n.1276+400_1276+403delinsTTTC
ENST00000638587.1:c.1207+400_1207+403delinsTTTC	ENSP00000491062.1:n.1207+400_1207+403delinsTTTC
ENST00000374574.2:c.1276+400_1276+403delinsTTTC	ENSP00000363702.2:n.1276+400_1276+403delinsTTTC
ENST00000374580.8:c.1276+400_1276+403delinsTTTC	ENSP00000363708.4:n.1276+400_1276+403delinsTTTC
NM_001204.6:c.1276+400_1276+403delinsTTTC , LRG_712t1:c.1276+400_1276+403delinsTTTC	NP_001195.2:n.1276+400_1276+403delinsTTTC
XM_011511687.1:c.1276+400_1276+403delinsTTTC	XP_011509989.1:n.1276+400_1276+403delinsTTTC
XM_011511688.1:c.1276+400_1276+403delinsTTTC	XP_011509990.1:n.1276+400_1276+403delinsTTTC
NM_001204.7:c.1276+400_1276+403delinsTTTC MANE Select	NP_001195.2:n.1276+400_1276+403delinsTTTC