Canonical Allele Identifier: CA1321540098
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519854_202519856delinsTTA , CM000664.2:g.202519854_202519856delinsTTA GRCh38
NC_000002.11:g.203384577_203384579delinsTTA , CM000664.1:g.203384577_203384579delinsTTA GRCh37
NC_000002.10:g.203092822_203092824delinsTTA NCBI36
NG_009363.1:g.148528_148530delinsTTA , LRG_712:g.148528_148530delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.853-233_853-231delinsTTA MANE Select ENSP00000363708.4:n.853-233_853-231delinsTTA
ENST00000638587.1:c.784-233_784-231delinsTTA ENSP00000491062.1:n.784-233_784-231delinsTTA
ENST00000374574.2:c.853-233_853-231delinsTTA ENSP00000363702.2:n.853-233_853-231delinsTTA
ENST00000374580.8:c.853-233_853-231delinsTTA ENSP00000363708.4:n.853-233_853-231delinsTTA
NM_001204.6:c.853-233_853-231delinsTTA , LRG_712t1:c.853-233_853-231delinsTTA NP_001195.2:n.853-233_853-231delinsTTA
XM_011511687.1:c.853-233_853-231delinsTTA XP_011509989.1:n.853-233_853-231delinsTTA
XM_011511688.1:c.853-233_853-231delinsTTA XP_011509990.1:n.853-233_853-231delinsTTA
NM_001204.7:c.853-233_853-231delinsTTA MANE Select NP_001195.2:n.853-233_853-231delinsTTA