Canonical Allele Identifier: CA2499215573

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1069902
• ClinVar RCV Id: RCV001381893
• dbSNP Id: rs2106008354

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520131_202520137del , CM000664.2:g.202520131_202520137del	GRCh38
NC_000002.11:g.203384854_203384860del , CM000664.1:g.203384854_203384860del	GRCh37
NC_000002.10:g.203093099_203093105del	NCBI36
NG_009363.1:g.148805_148811del , LRG_712:g.148805_148811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.897_903del MANE Select	ENSP00000363708.4:p.Ser300AlafsTer?
ENST00000638587.1:c.828_834del	ENSP00000491062.1:p.Ser277AlafsTer?
ENST00000374574.2:c.897_903del	ENSP00000363702.2:p.Ser300AlafsTer?
ENST00000374580.8:c.897_903del	ENSP00000363708.4:p.Ser300AlafsTer?
NM_001204.6:c.897_903del , LRG_712t1:c.897_903del	NP_001195.2:p.Ser300AlafsTer?
XM_011511687.1:c.897_903del	XP_011509989.1:p.Ser300AlafsTer?
XM_011511688.1:c.897_903del	XP_011509990.1:p.Ser300AlafsTer?
NM_001204.7:c.897_903del MANE Select	NP_001195.2:p.Ser300AlafsTer?