Canonical Allele Identifier: CA1321559313
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688559532
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555878_202555879insAGA , CM000664.2:g.202555878_202555879insAGA GRCh38
NC_000002.11:g.203420601_203420602insAGA , CM000664.1:g.203420601_203420602insAGA GRCh37
NC_000002.10:g.203128846_203128847insAGA NCBI36
NG_009363.1:g.184552_184553insAGA , LRG_712:g.184552_184553insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2213_2214insAGA MANE Select ENSP00000363708.4:p.Leu738_Pro739insGlu
ENST00000638587.1:c.2144_2145insAGA ENSP00000491062.1:n.2144_2145insAGA
ENST00000374574.2:c.1586+2990_1586+2991insAGA ENSP00000363702.2:n.1586+2990_1586+2991insAGA
ENST00000374580.8:c.2213_2214insAGA ENSP00000363708.4:p.Leu738_Pro739insGlu
NM_001204.6:c.2213_2214insAGA , LRG_712t1:c.2213_2214insAGA NP_001195.2:p.Leu738_Pro739insGlu
XM_011511687.1:c.2213_2214insAGA XP_011509989.1:p.Leu738_Pro739insGlu
XM_011511688.1:c.1586+2990_1586+2991insAGA XP_011509990.1:n.1586+2990_1586+2991insAGA
NM_001204.7:c.2213_2214insAGA MANE Select NP_001195.2:p.Leu738_Pro739insGlu
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