Canonical Allele Identifier: CA1321540057
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1687787187

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519762_202519774del , CM000664.2:g.202519762_202519774del GRCh38
NC_000002.11:g.203384485_203384497del , CM000664.1:g.203384485_203384497del GRCh37
NC_000002.10:g.203092730_203092742del NCBI36
NG_009363.1:g.148436_148448del , LRG_712:g.148436_148448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.853-325_853-313del MANE Select ENSP00000363708.4:n.853-325_853-313del
ENST00000638587.1:c.784-325_784-313del ENSP00000491062.1:n.784-325_784-313del
ENST00000374574.2:c.853-325_853-313del ENSP00000363702.2:n.853-325_853-313del
ENST00000374580.8:c.853-325_853-313del ENSP00000363708.4:n.853-325_853-313del
NM_001204.6:c.853-325_853-313del , LRG_712t1:c.853-325_853-313del NP_001195.2:n.853-325_853-313del
XM_011511687.1:c.853-325_853-313del XP_011509989.1:n.853-325_853-313del
XM_011511688.1:c.853-325_853-313del XP_011509990.1:n.853-325_853-313del
NM_001204.7:c.853-325_853-313del MANE Select NP_001195.2:n.853-325_853-313del