Canonical Allele Identifier: CA1321540059
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519760_202519761delinsTA , CM000664.2:g.202519760_202519761delinsTA GRCh38
NC_000002.11:g.203384483_203384484delinsTA , CM000664.1:g.203384483_203384484delinsTA GRCh37
NC_000002.10:g.203092728_203092729delinsTA NCBI36
NG_009363.1:g.148434_148435delinsTA , LRG_712:g.148434_148435delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.853-327_853-326delinsTA MANE Select ENSP00000363708.4:n.853-327_853-326delinsTA
ENST00000638587.1:c.784-327_784-326delinsTA ENSP00000491062.1:n.784-327_784-326delinsTA
ENST00000374574.2:c.853-327_853-326delinsTA ENSP00000363702.2:n.853-327_853-326delinsTA
ENST00000374580.8:c.853-327_853-326delinsTA ENSP00000363708.4:n.853-327_853-326delinsTA
NM_001204.6:c.853-327_853-326delinsTA , LRG_712t1:c.853-327_853-326delinsTA NP_001195.2:n.853-327_853-326delinsTA
XM_011511687.1:c.853-327_853-326delinsTA XP_011509989.1:n.853-327_853-326delinsTA
XM_011511688.1:c.853-327_853-326delinsTA XP_011509990.1:n.853-327_853-326delinsTA
NM_001204.7:c.853-327_853-326delinsTA MANE Select NP_001195.2:n.853-327_853-326delinsTA