Canonical Allele Identifier: CA1321550721
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542608_202542609delinsGA , CM000664.2:g.202542608_202542609delinsGA GRCh38
NC_000002.11:g.203407331_203407332delinsGA , CM000664.1:g.203407331_203407332delinsGA GRCh37
NC_000002.10:g.203115576_203115577delinsGA NCBI36
NG_009363.1:g.171282_171283delinsGA , LRG_712:g.171282_171283delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1413+161_1413+162delinsGA MANE Select ENSP00000363708.4:n.1413+161_1413+162delinsGA
ENST00000638587.1:c.1344+161_1344+162delinsGA ENSP00000491062.1:n.1344+161_1344+162delinsGA
ENST00000374574.2:c.1413+161_1413+162delinsGA ENSP00000363702.2:n.1413+161_1413+162delinsGA
ENST00000374580.8:c.1413+161_1413+162delinsGA ENSP00000363708.4:n.1413+161_1413+162delinsGA
NM_001204.6:c.1413+161_1413+162delinsGA , LRG_712t1:c.1413+161_1413+162delinsGA NP_001195.2:n.1413+161_1413+162delinsGA
XM_011511687.1:c.1413+161_1413+162delinsGA XP_011509989.1:n.1413+161_1413+162delinsGA
XM_011511688.1:c.1413+161_1413+162delinsGA XP_011509990.1:n.1413+161_1413+162delinsGA
NM_001204.7:c.1413+161_1413+162delinsGA MANE Select NP_001195.2:n.1413+161_1413+162delinsGA