Canonical Allele Identifier: CA2662706670

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202553036-T-TTTACATATTAAAAAATGCAGATTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202553036_202553037insTTACATATTAAAAAATGCAGATTTC , CM000664.2:g.202553036_202553037insTTACATATTAAAAAATGCAGATTTC	GRCh38
NC_000002.11:g.203417759_203417760insTTACATATTAAAAAATGCAGATTTC , CM000664.1:g.203417759_203417760insTTACATATTAAAAAATGCAGATTTC	GRCh37
NC_000002.10:g.203126004_203126005insTTACATATTAAAAAATGCAGATTTC	NCBI36
NG_009363.1:g.181710_181711insTTACATATTAAAAAATGCAGATTTC , LRG_712:g.181710_181711insTTACATATTAAAAAATGCAGATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC MANE Select	ENSP00000363708.4:n.1586+148_1586+149insTTACATATTAAAAAATGCAGA...
ENST00000638587.1:c.1517+148_1517+149insTTACATATTAAAAAATGCAGATTTC	ENSP00000491062.1:n.1517+148_1517+149insTTACATATTAAAAAATGCAGA...
ENST00000374574.2:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC	ENSP00000363702.2:n.1586+148_1586+149insTTACATATTAAAAAATGCAGA...
ENST00000374580.8:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC	ENSP00000363708.4:n.1586+148_1586+149insTTACATATTAAAAAATGCAGA...
NM_001204.6:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC , LRG_712t1:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC	NP_001195.2:n.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC
XM_011511687.1:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC	XP_011509989.1:n.1586+148_1586+149insTTACATATTAAAAAATGCAGATTT...
XM_011511688.1:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC	XP_011509990.1:n.1586+148_1586+149insTTACATATTAAAAAATGCAGATTT...
NM_001204.7:c.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC MANE Select	NP_001195.2:n.1586+148_1586+149insTTACATATTAAAAAATGCAGATTTC