Canonical Allele Identifier: CA1321545861

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202533131_202533135delinsTTTTC , CM000664.2:g.202533131_202533135delinsTTTTC	GRCh38
NC_000002.11:g.203397854_203397858delinsTTTTC , CM000664.1:g.203397854_203397858delinsTTTTC	GRCh37
NC_000002.10:g.203106099_203106103delinsTTTTC	NCBI36
NG_009363.1:g.161805_161809delinsTTTTC , LRG_712:g.161805_161809delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+399_1276+403delinsTTTTC MANE Select	ENSP00000363708.4:n.1276+399_1276+403delinsTTTTC
ENST00000638587.1:c.1207+399_1207+403delinsTTTTC	ENSP00000491062.1:n.1207+399_1207+403delinsTTTTC
ENST00000374574.2:c.1276+399_1276+403delinsTTTTC	ENSP00000363702.2:n.1276+399_1276+403delinsTTTTC
ENST00000374580.8:c.1276+399_1276+403delinsTTTTC	ENSP00000363708.4:n.1276+399_1276+403delinsTTTTC
NM_001204.6:c.1276+399_1276+403delinsTTTTC , LRG_712t1:c.1276+399_1276+403delinsTTTTC	NP_001195.2:n.1276+399_1276+403delinsTTTTC
XM_011511687.1:c.1276+399_1276+403delinsTTTTC	XP_011509989.1:n.1276+399_1276+403delinsTTTTC
XM_011511688.1:c.1276+399_1276+403delinsTTTTC	XP_011509990.1:n.1276+399_1276+403delinsTTTTC
NM_001204.7:c.1276+399_1276+403delinsTTTTC MANE Select	NP_001195.2:n.1276+399_1276+403delinsTTTTC