Canonical Allele Identifier: CA1321560231
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556532_202556533delinsGT , CM000664.2:g.202556532_202556533delinsGT GRCh38
NC_000002.11:g.203421255_203421256delinsGT , CM000664.1:g.203421255_203421256delinsGT GRCh37
NC_000002.10:g.203129500_203129501delinsGT NCBI36
NG_009363.1:g.185206_185207delinsGT , LRG_712:g.185206_185207delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2866+1_2866+2delinsGT MANE Select ENSP00000363708.4:n.2866+1_2866+2delinsGT
ENST00000638587.1:c.2797+1_2797+2delinsGT ENSP00000491062.1:n.2797+1_2797+2delinsGT
ENST00000374574.2:c.1587-3164_1587-3163delinsGT ENSP00000363702.2:n.1587-3164_1587-3163delinsGT
ENST00000374580.8:c.2866+1_2866+2delinsGT ENSP00000363708.4:n.2866+1_2866+2delinsGT
NM_001204.6:c.2866+1_2866+2delinsGT , LRG_712t1:c.2866+1_2866+2delinsGT NP_001195.2:n.2866+1_2866+2delinsGT
XM_011511687.1:c.2866+1_2866+2delinsGT XP_011509989.1:n.2866+1_2866+2delinsGT
XM_011511688.1:c.1587-3164_1587-3163delinsGT XP_011509990.1:n.1587-3164_1587-3163delinsGT
NM_001204.7:c.2866+1_2866+2delinsGT MANE Select NP_001195.2:n.2866+1_2866+2delinsGT