Canonical Allele Identifier: CA2701463853
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs2106006917
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518897_202518898insAAAGAAAGCAAGGTATTAATATCA , CM000664.2:g.202518897_202518898insAAAGAAAGCAAGGTATTAATATCA GRCh38
NC_000002.11:g.203383620_203383621insAAAGAAAGCAAGGTATTAATATCA , CM000664.1:g.203383620_203383621insAAAGAAAGCAAGGTATTAATATCA GRCh37
NC_000002.10:g.203091865_203091866insAAAGAAAGCAAGGTATTAATATCA NCBI36
NG_009363.1:g.147571_147572insAAAGAAAGCAAGGTATTAATATCA , LRG_712:g.147571_147572insAAAGAAAGCAAGGTATTAATATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.697_698insAAAGAAAGCAAGGTATTAATATCA MANE Select ENSP00000363708.4:p.Ser233Ter
ENST00000638587.1:c.628_629insAAAGAAAGCAAGGTATTAATATCA ENSP00000491062.1:p.Ser210Ter
ENST00000374574.2:c.697_698insAAAGAAAGCAAGGTATTAATATCA ENSP00000363702.2:p.Ser233Ter
ENST00000374580.8:c.697_698insAAAGAAAGCAAGGTATTAATATCA ENSP00000363708.4:p.Ser233Ter
NM_001204.6:c.697_698insAAAGAAAGCAAGGTATTAATATCA , LRG_712t1:c.697_698insAAAGAAAGCAAGGTATTAATATCA NP_001195.2:p.Ser233Ter
XM_011511687.1:c.697_698insAAAGAAAGCAAGGTATTAATATCA XP_011509989.1:p.Ser233Ter
XM_011511688.1:c.697_698insAAAGAAAGCAAGGTATTAATATCA XP_011509990.1:p.Ser233Ter
NM_001204.7:c.697_698insAAAGAAAGCAAGGTATTAATATCA MANE Select NP_001195.2:p.Ser233Ter
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