Canonical Allele Identifier: CA2662703671
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464683_202464686del , CM000664.2:g.202464683_202464686del GRCh38
NC_000002.11:g.203329406_203329409del , CM000664.1:g.203329406_203329409del GRCh37
NC_000002.10:g.203037651_203037654del NCBI36
NG_009363.1:g.93357_93360del , LRG_712:g.93357_93360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.77-126_77-123del MANE Select ENSP00000363708.4:n.77-126_77-123del
ENST00000374574.2:c.77-126_77-123del ENSP00000363702.2:n.77-126_77-123del
ENST00000374580.8:c.77-126_77-123del ENSP00000363708.4:n.77-126_77-123del
NM_001204.6:c.77-126_77-123del , LRG_712t1:c.77-126_77-123del NP_001195.2:n.77-126_77-123del
XM_011511687.1:c.77-126_77-123del XP_011509989.1:n.77-126_77-123del
XM_011511688.1:c.77-126_77-123del XP_011509990.1:n.77-126_77-123del
NM_001204.7:c.77-126_77-123del MANE Select NP_001195.2:n.77-126_77-123del