Canonical Allele Identifier: CA1041341987
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520085_202520086del , CM000664.2:g.202520085_202520086del GRCh38
NC_000002.11:g.203384808_203384809del , CM000664.1:g.203384808_203384809del GRCh37
NC_000002.10:g.203093053_203093054del NCBI36
NG_009363.1:g.148759_148760del , LRG_712:g.148759_148760del

Transcript Alleles

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