Canonical Allele Identifier: CA1321540169
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520019_202520020delinsAT , CM000664.2:g.202520019_202520020delinsAT GRCh38
NC_000002.11:g.203384742_203384743delinsAT , CM000664.1:g.203384742_203384743delinsAT GRCh37
NC_000002.10:g.203092987_203092988delinsAT NCBI36
NG_009363.1:g.148693_148694delinsAT , LRG_712:g.148693_148694delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.853-68_853-67delinsAT MANE Select ENSP00000363708.4:n.853-68_853-67delinsAT
ENST00000638587.1:c.784-68_784-67delinsAT ENSP00000491062.1:n.784-68_784-67delinsAT
ENST00000374574.2:c.853-68_853-67delinsAT ENSP00000363702.2:n.853-68_853-67delinsAT
ENST00000374580.8:c.853-68_853-67delinsAT ENSP00000363708.4:n.853-68_853-67delinsAT
NM_001204.6:c.853-68_853-67delinsAT , LRG_712t1:c.853-68_853-67delinsAT NP_001195.2:n.853-68_853-67delinsAT
XM_011511687.1:c.853-68_853-67delinsAT XP_011509989.1:n.853-68_853-67delinsAT
XM_011511688.1:c.853-68_853-67delinsAT XP_011509990.1:n.853-68_853-67delinsAT
NM_001204.7:c.853-68_853-67delinsAT MANE Select NP_001195.2:n.853-68_853-67delinsAT