Canonical Allele Identifier: CA1321510325
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467452_202467455delinsTTTG , CM000664.2:g.202467452_202467455delinsTTTG GRCh38
NC_000002.11:g.203332175_203332178delinsTTTG , CM000664.1:g.203332175_203332178delinsTTTG GRCh37
NC_000002.10:g.203040420_203040423delinsTTTG NCBI36
NG_009363.1:g.96126_96129delinsTTTG , LRG_712:g.96126_96129delinsTTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.248-67_248-64delinsTTTG MANE Select ENSP00000363708.4:n.248-67_248-64delinsTT...
ENST00000638587.1:c.179-67_179-64delinsTTTG ENSP00000491062.1:n.179-67_179-64delinsTT...
ENST00000374574.2:c.248-67_248-64delinsTTTG ENSP00000363702.2:n.248-67_248-64delinsTT...
ENST00000374580.8:c.248-67_248-64delinsTTTG ENSP00000363708.4:n.248-67_248-64delinsTT...
ENST00000479069.1:n.155-67_155-64delinsTTTG
NM_001204.6:c.248-67_248-64delinsTTTG , LRG_712t1:c.248-67_248-64delinsTTTG NP_001195.2:n.248-67_248-64delinsTTTG
XM_011511687.1:c.248-67_248-64delinsTTTG XP_011509989.1:n.248-67_248-64delinsTTTG
XM_011511688.1:c.248-67_248-64delinsTTTG XP_011509990.1:n.248-67_248-64delinsTTTG
NM_001204.7:c.248-67_248-64delinsTTTG MANE Select NP_001195.2:n.248-67_248-64delinsTTTG