Canonical Allele Identifier: CA1041342001

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520086_202520087insTTTTTTTTT , CM000664.2:g.202520086_202520087insTTTTTTTTT	GRCh38
NC_000002.11:g.203384809_203384810insTTTTTTTTT , CM000664.1:g.203384809_203384810insTTTTTTTTT	GRCh37
NC_000002.10:g.203093054_203093055insTTTTTTTTT	NCBI36
NG_009363.1:g.148760_148761insTTTTTTTTT , LRG_712:g.148760_148761insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-1_853insTTTTTTTTT MANE Select	ENSP00000363708.4:n.853-1_853insTTTTTTTTT
ENST00000638587.1:c.784-1_784insTTTTTTTTT	ENSP00000491062.1:n.784-1_784insTTTTTTTTT
ENST00000374574.2:c.853-1_853insTTTTTTTTT	ENSP00000363702.2:n.853-1_853insTTTTTTTTT
ENST00000374580.8:c.853-1_853insTTTTTTTTT	ENSP00000363708.4:n.853-1_853insTTTTTTTTT
NM_001204.6:c.853-1_853insTTTTTTTTT , LRG_712t1:c.853-1_853insTTTTTTTTT	NP_001195.2:n.853-1_853insTTTTTTTTT
XM_011511687.1:c.853-1_853insTTTTTTTTT	XP_011509989.1:n.853-1_853insTTTTTTTTT
XM_011511688.1:c.853-1_853insTTTTTTTTT	XP_011509990.1:n.853-1_853insTTTTTTTTT
NM_001204.7:c.853-1_853insTTTTTTTTT MANE Select	NP_001195.2:n.853-1_853insTTTTTTTTT