Canonical Allele Identifier: CA2841603268
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520272_202520303del , CM000664.2:g.202520272_202520303del GRCh38
NC_000002.11:g.203384995_203385026del , CM000664.1:g.203384995_203385026del GRCh37
NC_000002.10:g.203093240_203093271del NCBI36
NG_009363.1:g.148946_148977del , LRG_712:g.148946_148977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.967+71_967+102del MANE Select ENSP00000363708.4:n.967+71_967+102del
ENST00000638587.1:c.898+71_898+102del ENSP00000491062.1:n.898+71_898+102del
ENST00000374574.2:c.967+71_967+102del ENSP00000363702.2:n.967+71_967+102del
ENST00000374580.8:c.967+71_967+102del ENSP00000363708.4:n.967+71_967+102del
NM_001204.6:c.967+71_967+102del , LRG_712t1:c.967+71_967+102del NP_001195.2:n.967+71_967+102del
XM_011511687.1:c.967+71_967+102del XP_011509989.1:n.967+71_967+102del
XM_011511688.1:c.967+71_967+102del XP_011509990.1:n.967+71_967+102del
NM_001204.7:c.967+71_967+102del MANE Select NP_001195.2:n.967+71_967+102del